MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence

作者：Gordon Christopher T; Chopra Maya; Oufadem Myriam; Alibeu Olivier; Bras Marc; Boddaert Nathalie; Bole Feysot Christine; Nitschke Patrick; Abadie Veronique; Lyonnet Stanislas; Amiel Jeanne

来源：American Journal of Medical Genetics, Part A, 2018, 176(1): 181-186.

DOI：10.1002/ajmg.a.38536

<jats:sec><jats:label /><jats:p>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 (<jats:italic>MED13L</jats:italic>) in one patient prompted the investigation of copy number variants in <jats:italic>MED13L</jats:italic> in the other, leading to the identification of an intragenic deletion. Disruption of <jats:italic>MED13L</jats:italic>, 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 <jats:italic>MED13L</jats:italic>–related disorders are a possible differential diagnosis for syndromic PRS.</jats:p></jats:sec>

• 出版日期2018-1
• 单位常州工学院