A novel frameshift mutation in TWIST2 gene causing Setleis syndrome

Katta Mohan Girisha, Abdul Mueed Bidchol, Murali Keshava Sarpangala, Kapaettu Satyamoorthy

    Research output: Contribution to journalArticle

    7 Citations (Scopus)

    Abstract

    The authors report on a child with Setleis syndrome (OMIM 227260). She is born to a consanguineous couple with bitemporal scar like defects resembling forceps marks. She had other classical features resembling autosomal recessive Setleis syndrome. The authors identified a novel homozygous deletion of a single nucleotide (c.91delC) in TWIST2 gene leading to the premature truncation of protein (p.R31GfsX71).Umbilical hernia and genital anomalies are being reported for the first time with this condition. This is the fourth mutation proven family of Setleis syndrome.

    Original languageEnglish
    Pages (from-to)302-304
    Number of pages3
    JournalIndian Journal of Pediatrics
    Volume81
    Issue number3
    DOIs
    Publication statusPublished - 2014

    All Science Journal Classification (ASJC) codes

    • Pediatrics, Perinatology, and Child Health
    • Medicine(all)

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