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MED13L loss‐of‐function variants in two patients with syndromic Pierre Robin sequence
Author(s) -
Gordon Christopher T.,
Chopra Maya,
Oufadem Myriam,
Alibeu Olivier,
Bras Marc,
Boddaert Nathalie,
BoleFeysot Christine,
Nitschké Patrick,
Abadie Véronique,
Lyonnet Stanislas,
Amiel Jeanne
Publication year - 2018
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.38536
Subject(s) - exome sequencing , genetics , intellectual disability , sequence (biology) , loss function , biology , gene , mutation , exome , computational biology , dna sequencing , point mutation , bioinformatics , phenotype
We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features. Whole exome sequencing was performed for both patients. No single gene containing likely pathogenic point mutations in both patients could be identified, but the finding of an essential splice site mutation in mediator complex subunit 13 like ( MED13L ) in one patient prompted the investigation of copy number variants in MED13L in the other, leading to the identification of an intragenic deletion. Disruption of MED13L , encoding a component of the Mediator complex, is increasingly recognized as the cause of an intellectual disability syndrome with associated facial dysmorphism. Our findings suggest that MED13L –related disorders are a possible differential diagnosis for syndromic PRS.