A Novel Frameshift Mutation in TWIST2 Gene Causing Setleis Syndrome

Girisha, KM and Bidchol, Abdul Mueed and Sarpangala, Murali Keshava and Satyamoorthy, K (2013) A Novel Frameshift Mutation in TWIST2 Gene Causing Setleis Syndrome. The Indian Journal of Pediatrics. pp. 1-3. ISSN 0019-5456

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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.

Item Type: Article
Uncontrolled Keywords: Frameshift mutation; Setleis syndrome; Temporal scars; Aplasia cutis; TWIST2; Umbilical hernia.
Subjects: Life Sciences > MLSC Manipal
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Manipal
Date Deposited: 26 Oct 2013 10:54
Last Modified: 02 Jul 2014 05:09
URI: http://eprints.manipal.edu/id/eprint/137586

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