SMAD4 Database

  • Reference sequences were NC_000018.9 and NM_005359.5. cDNA number 1 is the "A" of the start codon.
  • Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
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  • Disease abbreviations are Juvenile Polyposis Syndrome (JP), Hereditary Hemorrhagic Telangiectasia (HHT), and the combined syndrome (JP/HHT).


87 variants found

Genomic Position Location ▾ Mutation Type Nucleotide Change Protein Change Classification Phenotype References Comments
Whole Gene Large Deletion Full Gene Deletion Pathogenic JP Aretz (2007)
c.-17093-?_1659+?del. First patient diagnosed with JPS at age 18, over 100 colorectal polyps, no gastric polyps. Second patient diagnosed at age 45 with >30 colorectal polyps and pronounced gastric juvenile and hyperplastic polyps. Third patient diagnosed at age 12 with massive juvenile polyps in the colon. Additional References: van Hattem (2008).
Exon 3 Indel c.189_197del
ins44
p.Thr63fs Pathogenic JP Woodford-Richens (2001)
The mutation of family 20 has been previously reported as 189-197del (Woodford-Richens (2000), an in-frame deletion of nine bases in exon 1.12 This mutation has been further characterized as a most unusual and complex change, which comprises a net 1-bp deletion and 44-bp insertion. (2001)
Exon 4 Nonsense c.302G>A p.Trp101* Pathogenic JP/HHT Gallione (2010)
Patient diagnosed with juvenile polyposis at age 13.5, no family history. Polyps located in the colon, rectum, and ileocecal valve. Two large and several small arteriovenous malformations (AVMs) in the lung. Patient diagnosed with HHT at age 13, no family history. No reported telangiectasia, epistaxis, or digital clubbing. Patient was also diagnosed with Williams syndrome at age 3 and has shown dental caries, supravalvar aortic stenosis (SVAS), acanthosis, and nigricans in the neck and axillae.
Exon 4 Silent c.354G>A p.Ala118Ala Benign JP Pyatt (2006)
ARUP Laboratories
Silent base change was previously undescribed.
Exon 4 Insertion c.373_374insAT p.Ser125fs Pathogenic JP Calva-Cerqueira (2009)
Described as being a mutation outside of the mutation rich region. c.373_4insAT
Exon 4 Duplication c.375_381dup p.Val128fs Pathogenic JP Handra-Luca (2005)
2 cases of this specific mutation. General clinical features of patients with JPS given in TABLE 1 of Handra-Luca (2005). Specific information for each mutation is not given.
Exon 4 Nonsense c.403C>T p.Arg135* Pathogenic JP Alazzouzi (2005)
Mutation causes JPS which predisposes patient to colorectal cancer. Patient diagnosed with JPS at age 48, described as having less than 20 juvenile polyps in the colon and pronounced gastric juvenile polyps in Aretz (2007). Additional References: Pyatt (2006)
Intron 4 Splice Site c.424+1G>A Pathogenic JP Woodford-Richens (2001)
This mutation is predicted to abrogate the correct splicing of exons 2 and 3 of SMAD4 (although no mRNA was available to determine the precise effects)
Intron 4 Splice Site c.425-6A>G Pending classification JP Aretz (2007)
Patient diagnosed with JPS at age 10 with numerous colorectal and gastric polyps
Exon 5 Deletion c.430_431del p.Ser144fs Pathogenic JP Pyatt (2006)
ARUP Laboratories
Patient diagnosed in infancy, less than 5 juvenile polyps in the rectum and stomach
Exon 5 Nonsense c.437T>A p.Leu146* Pathogenic JP Aretz (2007)
More than 5 colorectal polyps and mulitple gastric polyps
Exon 6 Deletion c.516_527del p.Ser173_Gly176del Pathogenic JP Woodford-Richens (2000)
Male patient, age 12 - Showing signoid and rectal polyps (50+). Father had colon cancer, age 48. Uncle had colon cancer, age 50.
Exon 6 Nonsense c.533C>G p.Ser178* Pathogenic JP Roth (1999)
Patient diagnosed at age 38, described as having 10-50 juvenile polyps in the large and small intestine. Patient also has congentital panhypopituitarism.
Exon 6 Nonsense c.538C>T p.Gln180* Pathogenic JP Woodford-Richens (2001)
Originally reported as c.541C>T
Exon 6 Deletion c.608del p.Pro203fs Pathogenic JP Sayed (2002)
General clinical features and mutation status for patients studied can be found in TABLE 1 of Sayed (2002). Specific information for each mutation is not given. Additional References: Calva-Cerqueira (2009), Howe (2004).
Exon 7-13 Large Deletion EX7-13del Pathogenic JP Aretz (2007)
c.668-?_1659+?del. Patient diagnosed with JPS at age 50, shows 2 colorectal polyps and over 200 gastric polyps
Exon 7 Duplication c.692dup p.Ser232fs Pathogenic JP/HHT Gallione (2010)
Howe (1998)
Patient diagnosed with juvenile polyposis at age 22, family history reported. Polyps located in the colon, stomach, and duodenum, also showed multiple AVMs in the lung. Patient diagnosed with HHT at age 36, family history reported. No reported telangiectasia, epistaxis, or digital clubbing. Patient was also diagnosed with ulverative colitis and mild hypertension.
Patient diagnosed at age 6, described as having 30-40 colonic juvenile polyps. Shikata (2005) patient (age 39) had gastric juvenile polyposis and anemia. Additional Reference: Howe (1998). c.687insG
Exon 7 Insertion c.731_732insGCCC p.Gln245fs Pathogenic JP Pyatt (2006)
c.729_730insCCGC. Patient diagnosed at age 8, ~140 juvenile polyps in the colon and terminal ileum.
Intron 7 Intronic c.788-32G>T Pending classification JP Sweet (2005)
Patient diagnosed at age 33, described as having pancolonic juvenile polyps. Described as polymorphism in reference (IVS7-32A>T).
Exon 8-13 Large Deletion EX8-13del Pathogenic JP Aretz (2007)
c.788-?_1659+?del. Patient diagnosed at age 12, has numerous colorectal polyps and 2 gastric polyps
Exon 8 Deletion c.831_832del p.Pro278* Pathogenic JP Friedl (1999)
Friedl (2002)
Originally reported as 959_960delAC at codon 277, exon 6. Patient diagnosed at age 12, described as having an asymptomatic ventricular septal defect, less than 50 juvenile polyps. Absence of gastric polyps at age 24, but massive gastric polyposis diagnosed at age 28. Additional Reference: Aretz (2007).
Intron 8 Intronic c.905-52A>G Benign JP ARUP Laboratories
A common polymorphism identified in many cases.
Exon 9 Duplication c.925_928dup p.Phe310fs Pathogenic JP Pyatt (2006)
Patient diagnosed at age 17, less than 10 juvenile polyps described as transverse and descending.
Exon 9 Deletion c.939del p.Ile314fs Pathogenic HHT Torring (2014)
Patient clinically diagnosed.
Exon 10 Missense c.970T>C p.Cys324Arg Pending classification JP van Hattem (2008)
Juvenile Polyposis Syndrome
Exon 10 Deletion c.971del p.Cys324fs Pathogenic JP van Hattem (2008)
Juvenile Polyposis Syndrome
Exon 10 Insertion c.982_983insT p.Tyr328fs Pathogenic JP Pyatt (2006)
Patient diagnosed between ages 9 and 10, less than 9 juvenile polyps in the rectum and hepatic flexure.
Exon 10 Missense c.988G>A p.Glu330Lys Pending classification JP and JP/HHT Alazzouzi (2005)
Mutation causes JPS which predisposes patient to colorectal cancer. Patient in Gallione (2010) diagnosed with juvenile polyposis at age 6.5, family history reported for JP and HHT. Showed anemia and epistaxis, with no evidence of telangiectasia or digital clubbing. Patient also described as showing the sickle cell trait, a developmental venous anomaly in the right temporal lobe, and a right proximal tibia fibrous cortical defect. Additional References: Pyatt (2006), Aretz (2007), Gallione (2010)
Exon 10 Missense c.989A>G p.Glu330Gly Pending classification JP Sayed (2002)
General clinical features and mutation status for patients studied can be found in TABLE of Sayed (2002). Specific information for each mutation is not given. Additional References: Calva-Cerqueira (2009), van Hattem (2008), Howe (2004).
Exon 10 Deletion c.1037del p.Pro346fs Pathogenic JP Sayed (2002)
General clinical features and mutation status for patients studied can be found in TABLE 1 of Sayed (2002). Specific information for each mutation is not given. Additional References: Calva-Cerqueira (2009), Howe (2004).
Exon 10 Deletion c.1042del p.Val348fs Pathogenic JP Howe (1998)
Patient described as having colonic and gastric juvenile polyps.
Exon 10 Missense c.1054G>A p.Gly352Arg Pending classification JP and JP/HHT Sayed (2002)
General clinical features and mutation status for patients studied can be found in TABLE 1 of Sayed (2002). Specific information for each mutation is not given. Howe (2004) describes 3 patients (ages 3, 5, and 9) from 1 family with juvenile polyps in the colon, osteoarthropathy, anaemia, and arteriovenous malformations (AVMs) of the lung or liver. One patient had a telangiectasia while another had a stroke. These patients were also diagnosed with HHT (ages 11, 7, and 8). Additional References: Calva-Cerqueira (2009), Gallione (2004).
Exon 10 Missense c.1055G>A p.Gly352Glu Pending classification JP/HHT Gallione (2010)
Patient diagnosed with juvenile polyposis at age 65, no family history. Polyps located in the colon, stomach, and duodenum with one large and several tiny AVMs in the lung. The patient was diagnosed with JP/HHT and HHT both at the age of 60, no family history of HHT reported. Described as showing signs of anemia, telangiectasaia, and epistaxis. The patient is also described as having pancreatic cysts.
Exon 10 Missense c.1058A>C p.Tyr353Ser Pending classification JP Roth (1999)
Originally reported as c.1186A>C, p.Tyr353Ser. Mutation detected in two Finnish family members with juvenile polyps located in the large intestine. Patient 1 is described as having less then 10 polpys while patient 2 has between 10-50 polyps. Mutation was also found in an unaffected individual.
Exon 10 Missense c.1081C>A p.Arg361Ser Pending classification JP Howe (2004)
Juvenile Polyposis Syndrome. Additional Reference: Calva-Cerqueira (2009).
Exon 10 Missense c.1081C>G p.Arg361Gly Pending classification JP and JP/HHT Gallione (2004)
Patient diagnosed at age 14, juvenile polyps located in the stomach and colon. Patient in Gallione (2004) is described as having juvenile polyps in the stomach and colon causing anaemia at age 14, as well as telangiectasia and epistaxis indicative of HHT. Additional References: Calva-Cerqueira (2009), Howe (2004).
Exon 10 Missense c.1081C>T p.Arg361Cys Pathogenic JP, JP/HHT, and HHT Houlston (1998)
ARUP Laboratories
Juvenile polyposis syndrome. Gallione (2006) describes 2 patients with this mutation. The first patient was diagnosed at age 13 with HHT having telangiectases of the lips and tongue, epistaxis, and a hepatic AVM. She was anemic, had 7 hamartomatous polyps in the colon and duodenum, and was diagnosed with colorectal cancer located in the cecum at age 45. The second patient (age 39) has classic HHT (telangiectases, epistaxis, pulmonary AVM, liver shunts) with no JPS symptoms. Additional Reference: Aretz (2007), Woodford-Richens (2000), Gallione (2010).
Exon 10 Missense c.1082G>A p.Arg361His Pathogenic JP and JP/HHT Kim (2000)
ARUP Laboratories
Patient described as having more than 20 juvenile polyps located throughout the colon and rectum. Patient in Aretz (2007) diagnosed with JPS at age 11, described as having more than 50 colorectal juvenile polyps. Addtitional References: Aretz (2007), Gallione (2010), and unpublished ARUP data.
Exon 10 Missense c.1082G>T p.Arg361Leu Pending classification JP/HHT Gallione (2010)
Patient diagnosed with juvenile polyposis at age 34, family history reported. Polyps were described as malignat and located in the colon and rectum with AVMs in the lung. The patient was diagnosed with JP/HHT and HHT at ages 17 and 17.5 respectfully, family history reported for HHT. Additionally, the patient was described as showng telangiectasia, epistaxis, digital clubbing, polycytemia, dental carries, and brain abscess (at age 35).
Exon 10 Missense c.1087T>C p.Cys363Arg Pathogenic JP Aretz (2007)
ARUP Laboratories
De novo mutation, patient diagnosed with JPS at age 5, shows mulitple colorectal polyps
Exon 10 Deletion c.1088_1090del p.Cys363del Pending classification JP/HHT Pyatt (2006)
Originally reported as c.1088-1090delGTT, del363C. Patient diagnosed at age 11, polyps located in the colon
Exon 10 Missense c.1091T>G p.Leu364Trp Pending classification JP and JP/HHT Pyatt (2006)
Patient diagnosed between ages 2 and 3, less than 15 juvenile polyps located in the colon. Patient in Gallione (2010) diagnosed with juvenile polyposis at age 2.5, family history reported. Polyps located in the cecum to rectum and in the sigmoid with AVMs in the lung and liver. The patient was diagnosed with JP/HHT and HHT both at the age of 5.5, family history of HHT reported. Additionally, the patient was described as showing epistaxis, digital clubbing, thrombosis, FTT, abdominal lower back and joint pain, and focal neruological symptoms (at the age 15).
Exon 10 Deletion c.1102_1103del p.Ser368fs Pathogenic JP/HHT Gallione (2010)
Patient diagnosed with juvenile polyposis at age 17, no reported family history. Polyps located in the colon with patient showing anemia. The patient was diagnosed with JP/HHT and HHT also at age 17, no reported family history for HHT. Additionally, the patient showed telangiectasia, epistaxis, and focal neurological symptoms.
Exon 10 Deletion c.1113del p.His371fs Pathogenic JP Pyatt (2006)
Patient diagnosed at age 33, described as having many juvenile polyps in the colon and stomach
Exon 10 Splice Site c.1139G>A p.Arg380Lys Pending classification JP Aretz (2007)
Reported as c.1139G>A, p.Gly336AlafsX11. Leads to the formation of a splice site within exon 08 resulting in the deletion of nucleotides c.1003-1139 and the formation of a premature stop codon due to a frameshift. Patient has hundreds of gastric polyps and 10 colorectal adenoma polyps.
Intron 10 Splice Site c.1139+1G>A Pathogenic JP Pyatt (2006)
Patient diagnosed at age 30, less than 15 juvenile polyps (two with focal adenomatous changes) located in the colon. Additional Reference: Calva-Cerqueira (2009)
Exon 11 Missense c.1148T>A p.Ile383Lys Pending classification JP/HHT Gallione (2010)
Patient diagnosed with juvenile polyposis at age 21, no reported family history. Polys located in the colon, ileum, and duodenum with one large and several minute AVMs in the lung. Patient diagnoed with JP/HHT at 4 months old, with no reported family history of HHT. Additionally, the patient showed telangiectasia, expistaxis, and digital clubbing as well as cyanosis, mitral valve prolapse, asthma, loss of vision in the right eye, and loss of hearing in the left ear.
Exon 11 Missense c.1156G>A p.Gly386Ser Pending classification HHT Torring (2014)
Patient clinically diagnosed.
Exon 11 Missense c.1157G>A p.Gly386Asp Pending classification JP and JP/HHT Burger (2002)
Patient diagnosed at age 11, described as having more than 70 juvenile volonic polyps. Also had pulmonary arteriovenous fistulai of the left lung, clubbed fingers, anemia, dental germs, and skeletal anomalies of the thorax [Friedl (2002)]. Patient in Aretz (2007) was diagnosed at age 10, described as having more than 50 colorectal polyps and no gastric polyps. Patients in Gallione (2004) diagnosed with JPS at ages 10 and 4 had juvenile polyps in the colon and duodenum causing anaemia. Patients also had lung AVMs, osteoarthropathy, and were diagnosed with HHT at ages 15 and 5. The eldest also had telangiectasia, epistaxis, and a stroke. Additional Reference: Gallione (2010)
Exon 11 Nonsense c.1162C>T p.Gln388* Pathogenic JP Kim (2000)
Patient described as having many polyps located throughout the stomach, colon, and rectum. Additional References: Calva-Cerqueira (2009), Sayed (2002), Howe (2004)
Exon 11 Missense c.1168G>A p.Glu390Lys Pending classification JP Kim (2000)
Patient described as having 28 juvenile polyps located throughout the colon and rectum. Additional Reference: van Hattem (2008).
Exon 11 Nonsense c.1193G>A p.Trp398* Pathogenic JP van Hattem (2008)
ARUP Laboratories
Juvenile Polyposis Syndrome. Additional Reference: Calva-Cerqueira (2009).
Exon 11 Deletion c.1228_1229del p.Gln410fs Pathogenic JP/HHT lyer (2010)
Patient diagnosed with juvenile polyposis at age 24 after he underwent colonoscopy for an episode of haematochezia, never smoked, was seen in the Respiratory Institute after identifying the presence of a mutation in the SMAD4 gene. The same mutation was identified in his mother, two brothers, and one sister.
Exon 11 Nonsense c.1236C>G p.Tyr412* Pathogenic JP Handra-Luca (2005)
General clinical features of patients with JPS given in TABLE 1 of Handra-Luca (2005). Specific clinical information related to each mutation is not given. Patient in Lamireau (2005), age 5, had clubbed fingers, anemia, and several juvenile polyps in the colon. Her brother, age 3, and father, age 35, also had marked clubbing and several juvenile polyps in the colon.
Exon 11 Deletion c.1242delA p.Asp415fs Pathogenic JP Handra-Luca (2005)
General clinical features of patients with JPS given in TABLE 1 of Handra-Luca (2005). Specific clinical information related to each mutation is not given.
Exon 11 Deletion c.1245_1248del p.Asp415fs Pathogenic JP/HHT Gallione (2010)
Howe (1998)
Most common mutation. Due to the nature of the sequence in this area, different descriptions of the nucleotide change have been reported: 2 cases Friedl (1999) [Originally reported as c.1372-1375delACAG, p.Asp415 frameshift], 3 cases Sayed (2002) [c.1244_1247delAGAC, p.Asp415 frameshift], 2 cases Pyatt (2006) [c.1242_1245delAGAC and c.1244_1247delACAG, both p.Asp415 frameshift], 6 cases Calva-Cerqueria (2009) [c.1244_1247delACAG, p.Asp415 frameshift], 1 case Roth (1999) [Orginally reported as c.1372_1375delAGAC, p.Asp415 frameshift], 4 cases Howe (2004) [1244_1247delAGAC, p.Asp415 frameshift], 4 cases Aretz (2007) [1245_1248delCAGA, p.Asp415 frameshift] 2 cases Friedl (2002) [c.1244_1247delACAG, p.Asp415 frameshift], 1 case Handra-Luca (2005) [c.1245_1248delCAGA, p.Asp415 frameshift], 1 case Pintiliciuc (2008) [1245_1248delCAGA, p.Asp415 frameshift], 1 case Patient diagnosed with juvenile polyposis at age 44, family history reported. Polyps located in the hepatic flexure and colon. Patient diagnosed with JP/HHT at age 50 with lung AVM (bilateral), telangiectasia, and epistaxis (Gallione 2010)[Orgininally reported as c.1242-1245delAGAC, p.Asp415 frameshift], 1 case unpublished ARUP data [c.1244_1247delACAG, p.Asp415 frameshift].
Exon 11 Deletion c.1268del p.Gly423fs Pathogenic JP Handra-Luca (2005)
General clinical features of patients with JPS given in TABLE 1 of Handra-Luca (2005). Specific clinical information related to each mutation is not given.
Exon 12 Nonsense c.1333C>T p.Arg445* Pathogenic JP Woodford-Richens (2000)
Male patient, age 39 with colonic polyps (tubular adenoma and adenoma); Female patient, age 6 with over 100 juvenile polyps, exocrine pancratic insuffieciency, short stature, development delay. Additional Reference: Handra-Luca (2005).
Exon 12 Nonsense c.1342C>T p.Gln448* Pathogenic JP Friedl (2002)
Patient diagnosed at age 12, not examined for gastric polyposis, had massive juvenile colorectal polyps. Additional Reference: Aretz (2007).
Exon 12 Deletion c.1343_1365del p.Gln448fs Pathogenic JP Howe 2004
Juvenile Polyposis Syndrome. Additional Reference: Calva-Cerqueira (2009).
Exon 12 Deletion c.1361_1364del p.Ala454fs Pathogenic JP Pyatt (2006)
Patient diagnosed at age 23, has less than 20 juvenile polyps in the cecum described as ascending and descending
Exon 12 Insertion c.1409_1410insCCCT p.Gly471fs Pathogenic JP Sweet (2005)
Juvenile Polyposis Syndrome
Exon 12 Deletion c.1411_1435del p.Gly471fs Pathogenic JP van Hattem (2008)
Juvenile Polyposis Syndrome
Exon 12 Deletion c.1421del p.Ser474* Pathogenic JP Aretz (2007)
Patient shows several colorectal polyps and gastric polyps.
Intron 12 Splice Site c.1447+1G>A Pathogenic JP/HHT Schwenter (2011)
The patient presented symptoms of fatigue and anemia. Father had history of epistaxis. Colonoscopy showed 25 lobulated polyps and chest tomography revealed an AVM in left lower lobe.
Exon 13 Missense c.1472G>T p.Gly491Val Pending classification JP Alazzouzi (2005)
Mutation causes JPS which predisposes patient to colorectal cancer. Additional References: Pyatt (2006) and Aretz (2007).
Exon 13 Missense c.1478A>C p.Asp493Ala Pending classification JP Alazzouzi (2005)
Mutation causes JPS which predisposes patient to colorectal cancer. Originally reported as p.Asp493Val. Additional References: Pyatt (2006), Aretz (2007)
Exon 13 Missense c.1525T>A p.Trp509Arg Pending classification JP Sweet (2005)
Patient diagnosed at age 31, described as having juvenile polyps and tubular adenomas. Originally reported as 1524T>A, p.Trp508Arg. Additional Reference: Calva-Cerqueira (2009)
Exon 13 Nonsense c.1527G>A p.Trp509* Pathogenic JP Pintiliciuc (2008)
Female patient, age 51 - diagnosed with gastric polyps 20 years earlier, free of alopecia, onycolisis, cutaneous telangiesctasia, and hyperpigmentation. The patient reported no weight loss or hematemesis, but showed mild anemia.
Exon 13 Missense c.1529G>T p.Gly510Val Pending classification JP Howe (2004)
Juvenile Polyposis Syndrome. Additional Reference: Calva-Cerqueira (2009).
Exon 13 Deletion c.1544del p.Arg515fs Pathogenic JP Friedl (2002)
Originally reported as c.1554delG. Patient diagnosed at age 39, described as having gastric polyposis and giant gastric folds. Gastrectomy at age 40. Patient in Aretz (2007) is described as having multiple colorectal and gastric polyps at age 40 with giant hypertrophic gastritis.
Exon 13 Duplication c.1547_1550dup p.Ser517fs Pathogenic JP Aretz (2007)
Patient shows numerous colorectal polyps and multiple gastric polyps
Exon 13 Insertion c.1550_1551insAGAG p.Ser517fs Pathogenic JP Friedl (2002)
Patient diagnosed at age 21. Gastric polyposis diagnosed at age 36; gastrectomy at age 40.
Exon 13 Deletion c.1564_1565del p.Pro522fs Pathogenic JP Woodford-Richens (2000)
Male patient, >100 gastric juvenile polyps, 8 colorectal juvenile polyps
Exon 13 Missense c.1571G>T p.Trp524Leu Pending classification JP Handra-Luca (2005)
General clinical features of patients with JPS given in TABLE 1 of Handra-Luca (2005). Specific clinical information related to each mutation is not given.
Exon 13 Duplication c.1586dup p.Leu529fs Pathogenic JP van Hattem (2008)
Juvenile Polyposis Syndrome
Exon 13 Deletion c.1588del p.His530fs Pathogenic JP Sayed (2002)
General clinical features and mutation status for patients studied can be found in TABLE 1 of Sayed (2002). Specific information for each mutation is not given. Reported as c.1588delC, p.Arg530 frameshift in Calva-Cerqueira (2009). Additional Reference: Howe (2004).
Exon 13 Duplication c.1589_1590dup p.Arg531fs Pathogenic JP/HHT Gallione (2010)
c.1587_88dupTA. Patiend diagnosed with juvenile polyposis at age 3, for reported family history. Polyps located in the colon and rectum with multiple AVMs in the lung and cerebral. Patient diagnosed with JP/HHT and HHT at ages 6 and 7 respectively, with no reported family history of HHT. Additionally, the patient showed anemia, telangiecetasia, epistaxis, digital clubbing, anemia, and asthma. Mutation was de novo.
Exon 13 Deletion c.1594del p.Ala532fs Pathogenic JP/HHT Gallione (2004)
Patient diagnosed at age 11, juvenile polyps located in the colon. Positive for telangiectasia and epistaxis.
Exon 13 Indel c.1596_1597delinsT p.Leu533fs Pathogenic JP/HHT Gallione (2006)
Patient has telangiectases, epistaxis, colonic polyps, and arteriorvenous malformations in the lung and gastrointestinal tract.
Exon 13 Deletion c.1597del p.Leu533fs Pathogenic JP/HHT Pyatt (2006)
1596delC. Patient diagnosed at age 7 with a colectomy at 7
Exon 13 Missense c.1597C>G p.Leu533Val Pending classification JP Alazzouzi (2005)
Mutation causes JPS which predisposes patient to colorectal cancer. Additional References: Pyatt (2006), Aretz (2007).
Exon 13 Missense c.1598T>G p.Leu533Arg Pending classification JP/HHT Gallione (2004)
Patient 1and patient 2 diagnosed with JPS at ages 15 and 14 respectively, with no symptoms of HHT. Patient 3 diagnosed with JPS at age 3 at HHT at age 9. Arteriovenous malformations located in the lungs and liver.
Exon 13 Missense c.1598T>C p.Leu533Pro Pending classification JP/HHT Gallione (2010)
Patient diagnosed with juvenile polyposis at age 36, family history not know. Polyps located in the colon and AVM in the lung. Patiend diagnosed with JP/HHT and HHT at age 36 and 7 respectively, family history reported for HHT. Additionally, the patient showed telangiecetasia, epistaxis, digital clubbing, and anemia.
Exon 13 Nonsense c.1600C>T p.Gln534* Pathogenic JP/HHT Gallione (2004)
Patient diagnosed with JPS before tenth birthday. Juvenile polyps located in the upper GI tract. Age of diagnosis for HHT is not known, but patient has epistaxis, osteoarthropathy, developmental delay, and a history of mild seizures.
Exon 13 Duplication c.1607dup p.Asp537fs Pathogenic JP Handra-Luca (2005)
General clinical features of patients with JPS given in TABLE 1 of Handra-Luca (2005). Specific clinical information related to each mutation is not given.
Exon 13 Deletion c.1612_1625del p.Glu538fs Pathogenic JP/HHT Gallione (2004)
Patient 1 diagnosed with JPS at age 41, diagnosed with HHT at age 32 with arteriovenous malformations located in the lungs and liver. Patient 2 diagnosed with JPS at age 8, with no symptoms of HHT.