Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing
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چکیده
منابع مشابه
Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing
Hereditary multiple exostosis (HME) is an autosomal inherited skeletal disease whose etiology is not fully understood. To further understand the genetic spectrum of the disease, we analyzed a five-generation Chinese family with HME that have observable inheritance. Exome sequencing was performed on three HME individuals and three unaffected individuals from the family. A downstream study confir...
متن کاملIdentification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing
Multiple osteochondromas (MO) is an autosomal skeletal disease with an elusive molecular mechanism. To further elucidate the genetic mechanism of the disease a three‑generation Chinese family with MO was observed and researched, and a novel frameshift mutation (c.335_336insA) in the exotosin 1 (EXT1) gene of one patient with MO was observed through exome sequencing. This was further validated b...
متن کاملExome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas
Multiple osteochondromas (MO) is an inherited skeletal disorder, and the molecular mechanism of MO remains elusive. Exome sequencing has high chromosomal coverage and accuracy, and has recently been successfully used to identify pathogenic gene mutations. In this study, exome sequencing followed by Sanger sequencing validation was first used to screen gene mutations in two representative MO pat...
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Vol. 29, No. 2, 2017 243 Received December 2, 2015, Revised April 6, 2016, Accepted for publication April 8, 2016 Corresponding author: Nadia Laroussi, Biomedical Genomics and Oncogenetics Laboratory LR11IPT05, Institut Pasteur de Tunis 13, Place Pasteur 1002 Tunis, Tunisia. Tel: +216-71843755, Fax: +216-71791833, E-mail: [email protected] This is an Open Access article distributed under ...
متن کاملWhole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient
Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polyd...
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ژورنال
عنوان ژورنال: Oncology Reports
سال: 2014
ISSN: 1021-335X,1791-2431
DOI: 10.3892/or.2014.3610