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 journalArticlepeer-review

10 Citations (Scopus)


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
Issue number3
Publication statusPublished - 2014

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • General Medicine


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