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Three M syndrome 2 in two Indian patients
Author(s) -
Jacob Prince,
Girisha Katta M.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61949
Subject(s) - proband , microcephaly , short stature , compound heterozygosity , intellectual disability , medicine , genetics , disease , pediatrics , genetic disorder , ethnic group , allele , biology , mutation , gene , political science , law
3‐M syndrome is a rare autosomal recessive disorder, characterized by short stature, characteristic facies and absence of microcephaly and intellectual disability. 3‐M syndrome 2 (MIM# 612921) is caused by biallelic disease causing variants in OBSL1 . In this study, we identified two probands from two families with homozygous, c.1534 + 5G > T and compound heterozygous variants, c.35dup and c.1273dup in OBSL1 , respectively. We herein highlight the clinical and molecular findings of the first reported cases from Indian ethnicity.