Two Frequent Missense Mutations in Pendred Syndrome
نویسندگان
چکیده
منابع مشابه
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.
Recently the gene responsible for Pendred syndrome (PDS) was isolated and several mutations in the PDS gene have been identified in Pendred patients. Here we report the occurrence of two different PDS mutations in an extended inbred Turkish family. The majority of patients in this family are homozygous for a splice site mutation (1143-2A-->G) affecting the 3' splice site consensus sequence of i...
متن کاملIdentification of two diVerent mutations in the PDS gene in an inbred family with Pendred syndrome
Recently the gene responsible for Pendred syndrome (PDS) was isolated and several mutations in the PDS gene have been identified in Pendred patients. Here we report the occurrence of two diVerent PDS mutations in an extended inbred Turkish family. The majority of patients in this family are homozygous for a splice site mutation (1143-2A→G) aVecting the 3' splice site consensus sequence of intro...
متن کاملCompound 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 کاملPENDRED\'S SYNDROME REVISITED
Pendred's syndrome is defined as a triad of congenital perceptive hearing loss, goiter, and abnormal perchlorate test. Three brothers with Pendred's syndrome [P.S.] are reported. The oldest brother has hearing loss (he has been deaf and mute since childhood) and has a large goiter. A thyroid scan revealed euthyroid multinodular goiter and a perchlorate test was performed, and reported abno...
متن کاملPendred syndrome in Tunisia.
OBJECTIVES We report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome. PATIENTS AND METHODS Three families from the south of Tunisia were identified as affected by Pendred syndrome. The patients and their families underwent ENT and general examination and audiovestibular and radiological tests. Molecular DNA analysis was performed by the Sfax...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1998
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/7.7.1099