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Information Journal Paper

Title

A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy

Pages

  6999-7002

Keywords

Abstract

 Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare Genetic disorder caused from Mutations in the Cadherin 3 (CDH3) Gene. Results In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 Gene (NM_001793: exon8: c. 830delG) which leads to a frame-shift Mutation (p. G277Afs*20). No intra-familial phenotypic variation was found. Conclusion Identification of disease-causing Mutation in this family facilitated the effective Genetic counseling and prenatal diagnosis.

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    APA: Copy

    GHAFOURI FARD, SOUDEH, FARDAEI, MAJID, TABEI, SEYED MOHAMMAD BAGHER, DIANATPOUR, MEHDI, & MIRYOUNESI, MOHAMMAD. (2018). A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy. INTERNATIONAL JOURNAL OF PEDIATRICS, 6(1 (49)), 6999-7002. SID. https://sid.ir/paper/337716/en

    Vancouver: Copy

    GHAFOURI FARD SOUDEH, FARDAEI MAJID, TABEI SEYED MOHAMMAD BAGHER, DIANATPOUR MEHDI, MIRYOUNESI MOHAMMAD. A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy. INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2018;6(1 (49)):6999-7002. Available from: https://sid.ir/paper/337716/en

    IEEE: Copy

    SOUDEH GHAFOURI FARD, MAJID FARDAEI, SEYED MOHAMMAD BAGHER TABEI, MEHDI DIANATPOUR, and MOHAMMAD MIRYOUNESI, “A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy,” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 6, no. 1 (49), pp. 6999–7002, 2018, [Online]. Available: https://sid.ir/paper/337716/en

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