Sotos syndrome in two children from India.

American Journal of Medical Genetics. Part a
Inusha Panigrahi, Chakshu Chaudhry

Abstract

Sotos syndrome is one of the overgrowth syndromes, and can present with intellectual disability, behavioral problems and tall stature. In some cases, seizures, pectus deformity, cardiac and renal anomalies may be identified. Here we report two Indian children with Sotos syndrome whose initial presentation was macrocephaly and behavioral problems, respectively. The pathogenic variants in NSD1 gene were confirmed by next generation sequencing. The gene variants in the two children, one male and one female; were NSD1: c.2362C>T and NSD1: c.5474dup, respectively, leading to premature termination of protein formation.

References

Jun 9, 2005·American Journal of Human Genetics·Katrina Tatton-BrownUNKNOWN Childhood Overgrowth Collaboration
Feb 6, 2019·American Journal of Medical Genetics. Part a·Katheryn GrandJennifer M Kalish
Sep 4, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Alison FosterKatrina Tatton-Brown

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