TY - JOUR
T1 - A novel frameshift mutation in TWIST2 gene causing Setleis syndrome
AU - Girisha, Katta Mohan
AU - Bidchol, Abdul Mueed
AU - Sarpangala, Murali Keshava
AU - Satyamoorthy, Kapaettu
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
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U2 - 10.1007/s12098-013-1253-y
DO - 10.1007/s12098-013-1253-y
M3 - Article
C2 - 24127007
AN - SCOPUS:84898442035
SN - 0972-9607
VL - 81
SP - 302
EP - 304
JO - Indian Journal of Practical Pediatrics
JF - Indian Journal of Practical Pediatrics
IS - 3
ER -