TY - JOUR
T1 - Three M syndrome 2 in two Indian patients
AU - Jacob, Prince
AU - Girisha, Katta M.
N1 - Publisher Copyright:
© 2020 Wiley Periodicals LLC
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.a.61949
DO - 10.1002/ajmg.a.61949
M3 - Article
AN - SCOPUS:85094956540
SN - 1552-4825
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
ER -