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Information Journal Paper

Title

A COMPREHENSIVE GENETIC AND CLINICAL EVALUATION OF WAARDENBURG SYNDROME TYPE II IN A SET OF IRANIAN PATIENTS

Pages

  17-23

Abstract

 Waardenburg syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance, and considerable clinical and genetic heterogeneity. WS type II is the most common type of WS in many populations presenting with sensorineural hearing impairment, heterochromia iridis, hypoplastic blue eye, and pigmentary abnormalities of the hair and skin. To date, MUTATIONs ofMITF, SOX10, and SNAI2 have been implicated in the pathogenesis of WS2. Although different pathogenic MUTATIONs have been reported in many ethnic groups, the data on IRANian WS2 patients is insufficient.31WS2 patients, including 22 men and 9 women from 14 families were included. Waardenburg consortium guidelines were employed for WS2 diagnosis. WS2 patients underwent screening forMITF, SOX10, and SNAI2 MUTATIONs using direct sequencing and MLPA analysis. Clinical evaluation revealed prominent phenotypic variability in IRANian WS2 patients. Sensorineural hearing impairment and heterochromia iridis were the most common features (67% and 45%, respectively), whereas anosmia was the least frequent phenotype. Molecular analysis revealed ade novo heterozygous c.640C>T (p.R214X) in MITF and a de novoheterozygous SOX10 gross deletion in the study population. Our data help illuminate the phenotypic and genotypic spectrum of WS2 in an IRANian series of patients, and could have implications for the genetic counseling of WS in IRAN.

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    APA: Copy

    JALILIAN, NAZANIN, TABATABAIEFAR, MOHAMMAD AMIN, YAZDANPANAH, MAHBOUBEH, DARABI, ELHAM, BAHRAMI, TAYYEB, ZEKRI, ALI, & NOORI DALOII, MOHAMMAD REZA. (2018). A COMPREHENSIVE GENETIC AND CLINICAL EVALUATION OF WAARDENBURG SYNDROME TYPE II IN A SET OF IRANIAN PATIENTS. INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE, 7(1), 17-23. SID. https://sid.ir/paper/332170/en

    Vancouver: Copy

    JALILIAN NAZANIN, TABATABAIEFAR MOHAMMAD AMIN, YAZDANPANAH MAHBOUBEH, DARABI ELHAM, BAHRAMI TAYYEB, ZEKRI ALI, NOORI DALOII MOHAMMAD REZA. A COMPREHENSIVE GENETIC AND CLINICAL EVALUATION OF WAARDENBURG SYNDROME TYPE II IN A SET OF IRANIAN PATIENTS. INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE[Internet]. 2018;7(1):17-23. Available from: https://sid.ir/paper/332170/en

    IEEE: Copy

    NAZANIN JALILIAN, MOHAMMAD AMIN TABATABAIEFAR, MAHBOUBEH YAZDANPANAH, ELHAM DARABI, TAYYEB BAHRAMI, ALI ZEKRI, and MOHAMMAD REZA NOORI DALOII, “A COMPREHENSIVE GENETIC AND CLINICAL EVALUATION OF WAARDENBURG SYNDROME TYPE II IN A SET OF IRANIAN PATIENTS,” INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE, vol. 7, no. 1, pp. 17–23, 2018, [Online]. Available: https://sid.ir/paper/332170/en

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