A FAMILY WITH TWO CONSECUTIVE NONSENSE MUTATIONS IN BMPR1A CAUSING JUVENILE POLYPOSIS

James R Howe; Sathivel Chinnathambi; Daniel Calva; Jennifer Bair; Brenda Pechman; Agnes Salamon; Beatrix Tam; Laszlo Simon

doi:10.1016/j.cancergencyto.2007.11.001

Journal article

A FAMILY WITH TWO CONSECUTIVE NONSENSE MUTATIONS IN BMPR1A CAUSING JUVENILE POLYPOSIS

James R Howe, Sathivel Chinnathambi, Daniel Calva, Jennifer Bair, Brenda Pechman, Agnes Salamon, Beatrix Tam and Laszlo Simon

Cancer genetics and cytogenetics, Vol.181(1), pp.52-54

02/2008

DOI: 10.1016/j.cancergencyto.2007.11.001

PMCID: PMC2674273

PMID: 18262054

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Abstract

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

nonsense mutations

Juvenile Polyposis

BMPR1A

Details

Title: Subtitle: A FAMILY WITH TWO CONSECUTIVE NONSENSE MUTATIONS IN BMPR1A CAUSING JUVENILE POLYPOSIS
Creators: James R Howe - Department of Surgery, University of Iowa Carver College of Medicine, Iowa City, IA
Sathivel Chinnathambi - Department of Surgery, University of Iowa Carver College of Medicine, Iowa City, IA
Daniel Calva - Department of Surgery, University of Iowa Carver College of Medicine, Iowa City, IA
Jennifer Bair - Department of Surgery, University of Iowa Carver College of Medicine, Iowa City, IA
Brenda Pechman - Department of Surgery, University of Iowa Carver College of Medicine, Iowa City, IA
Agnes Salamon - Department of Gastroenterology, Tolna County Teaching Hospital, Szekszard, Hungary
Beatrix Tam - Department of Gastroenterology, Tolna County Teaching Hospital, Szekszard, Hungary
Laszlo Simon - National Clinical Audit Leader in Gastroenterology, National Centre for Healthcare Audit and Inspection, Budapest Hungary
Resource Type: Journal article
Publication Details: Cancer genetics and cytogenetics, Vol.181(1), pp.52-54
DOI: 10.1016/j.cancergencyto.2007.11.001
PMID: 18262054
PMCID: PMC2674273
NLM abbreviation: Cancer Genet Cytogenet
ISSN: 0165-4608
eISSN: 1873-4456
Language: English
Date published: 02/2008
Academic Unit: Surgery
Record Identifier: 9984051775702771

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