Literature DB >> 18262054

A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.

James R Howe1, Sathivel Chinnathambi, Daniel Calva, Jennifer Bair, Brenda Pechman, Agnes Salamon, Beatrix Tam, László Simon.   

Abstract

We describe a novel germline mutation of BMPR1A in a family with juvenile polyposis and colon cancer. This mutation consists of two consecutive substitutions (735-6 TG>AT) that cause two nonsense mutations (Y245X, G246X), inherited in an autosomal dominant fashion, on one parental chromosome. This mutation caused protein truncation, and represents a novel case of consecutive nonsense mutations in human disease.

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Year:  2008        PMID： 18262054      PMCID： PMC2674273          DOI： 10.1016/j.cancergencyto.2007.11.001

Source DB:  PubMed          Journal:  Cancer Genet Cytogenet        ISSN： 0165-4608


  17 in total

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Authors:  J R Howe; F A Mitros; R W Summers
Journal:  Ann Surg Oncol       Date:  1998-12       Impact factor: 5.344

2.  Properties of the double substituted hemoglobin C Ziguinchor alpha2A beta 2 6 Glu replaced by Val 58 Pro replaced by Arg.

Authors:  W Hassan; P Basset; J L Oudart; M Goossens; J Rosa
Journal:  Hemoglobin       Date:  1977       Impact factor: 0.849

3.  Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.

Authors:  M G Sayed; A F Ahmed; J R Ringold; M E Anderson; J L Bair; F A Mitros; H T Lynch; S T Tinley; G M Petersen; F M Giardiello; B Vogelstein; J R Howe
Journal:  Ann Surg Oncol       Date:  2002-11       Impact factor: 5.344

4.  Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

Authors:  J R Howe; J L Bair; M G Sayed; M E Anderson; F A Mitros; G M Petersen; V E Velculescu; G Traverso; B Vogelstein
Journal:  Nat Genet       Date:  2001-06       Impact factor: 38.330

5.  Familial juvenile polyposis coli; increased risk of colorectal cancer.

Authors:  H Järvinen; K O Franssila
Journal:  Gut       Date:  1984-07       Impact factor: 23.059

6.  The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

Authors:  J R Howe; M G Sayed; A F Ahmed; J Ringold; J Larsen-Haidle; A Merg; F A Mitros; C A Vaccaro; G M Petersen; F M Giardiello; S T Tinley; L A Aaltonen; H T Lynch
Journal:  J Med Genet       Date:  2004-07       Impact factor: 6.318

7.  The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.

Authors:  Marina De Rosa; Maria I Scarano; Luigi Panariello; Gemma Morelli; Gabriele Riegler; Giovanni B Rossi; Alfonso Tempesta; Giovanni Romano; Andrea Renda; Guido Pettinato; Paola Izzo
Journal:  Hum Mutat       Date:  2003-06       Impact factor: 4.878

8.  Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma.

Authors:  K Becker; M Csikós; M Sárdy; Z S Szalai; A Horváth; S Kárpáti
Journal:  Exp Dermatol       Date:  2003-06       Impact factor: 3.960

9.  A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

Authors:  Carol J Gallione; Gabriela M Repetto; Eric Legius; Anil K Rustgi; Susan L Schelley; Sabine Tejpar; Grant Mitchell; Eric Drouin; Cornelius J J Westermann; Douglas A Marchuk
Journal:  Lancet       Date:  2004-03-13       Impact factor: 79.321

10.  Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

Authors:  K Kawabe; K Goto; I Nishino; C Angelini; Y K Hayashi
Journal:  Eur J Neurol       Date:  2004-10       Impact factor: 6.089
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  3 in total

1.  Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations.

Authors:  Scott K Sherman; Jessica E Maxwell; Qining Qian; Andrew M Bellizzi; Terry A Braun; Mark D Iannettoni; Benjamin W Darbro; James R Howe
Journal:  Cancer Genet       Date:  2014-11-15

2.  The real face of juvenile polyposis syndrome.

Authors:  Beatrix Tam; Agnes Salamon; Attila Bajtai; Annamária Németh; János Kiss; László Simon; Tamás Molnár
Journal:  J Gastrointest Oncol       Date:  2012-12

3.  Recurrent Gastrointestinal Hemorrhage in Treatment with Dasatinib in a Patient Showing SMAD4 Mutation with Acute Lymphoblastic Leukemia Philadelphia Positive and Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Syndrome.

Authors:  Chiara Sartor; Cristina Papayannidis; Maria Chiara Abbenante; Ilaria Iacobucci; Alessandro Broccoli; Claudia Venturi; Nicoletta Testoni; Anna Ferrari; Giovanni Martinelli
Journal:  Hematol Rep       Date:  2013-07-03
  3 in total

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