Schuurs-Hoeijmakers syndrome in a patient from India
- 1 April 2019
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 179 (4), 522-524
- https://doi.org/10.1002/ajmg.a.61058
Abstract
Schuurs-Hoeijmakers syndrome (SHMS), or Autosomal Dominant Mental Retardation Syndrome type 17 (MRD17) is a rare form of intellectual disability with distinct facial features. A recurrent de novo heterozygous c.607C>T, p.Arg203Trp mutation in the PACS1 gene accounts for all reported cases except for one patient with a de novo heterozygous c.608G>A, p.Arg203Trp mutation. Ethnic background is known to affect the clinical manifestation of dysmorphic syndromes. Here we describe the first Indian patient with Schuurs-Hoeijmakers syndrome (SHMS) with a de novo heterozygous NM_018026.3 (PACS1):c.607C>T (p.Arg203Trp) variant. He is the only child with SHMS with a cleft lip. Thus our report expands the phenotypic spectrum of SHMS and establishes its occurrence across populations.This publication has 5 references indexed in Scilit:
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