Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
نویسندگان
چکیده
منابع مشابه
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome
OBJECTIVES The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management of deaf patients. METHODS We investigated the genetic etiology in a large consanguineous family with 9 deaf patients from Fars province of I...
متن کاملDigenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.
SCN5A and SNTA1 are reported susceptible genes for long QT syndrome (LQTS). This study was designed to elucidate a plausible pathogenic arrhythmia mechanism for the combined novel mutations R800L-SCN5A and A261V-SNTA1 on cardiac sodium channels. A Caucasian family with syncope and marginally prolonged QT interval was screened for LQTS-susceptibility genes and found to harbor the R800L mutation ...
متن کاملFurther support for digenic inheritance in Bardet-Biedl syndrome.
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterised by the primary features of obesity, retinal dystrophy, polydactyly, renal malformations, mental retardation, and hypogenitalism. Patients with BBS also have an increased risk for developing diabetes mellitus, hypertension, and congenital heart disease. Seven loci have been mapped with evidence of at least one addi...
متن کاملExome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family
BACKGROUND Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AND RESULTS Whole exome sequencing was performed on 2 sisters with PDS and the...
متن کاملDigenic inheritance in medical genetics
Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are only dozens of human disease phenotypes with evidence for DI in some pedigrees. The advent of high-throughput sequencing (HTS) has made it simpler to identify monogenic disease causes and could sim...
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ژورنال
عنوان ژورنال: Yearbook of Paediatric Endocrinology
سال: 2020
ISSN: 1662-4009
DOI: 10.1530/ey.17.3.9