Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

作者：Bruel A L; Masurel Paulet A; Riviere J B; Duffourd Y; Lehalle D; Bensignor C; Huet F; Borgnon J; Roucher F; Kuentz P; Deleuze J F; Thauvin Robinet C; Faivre L; Thevenon J^*

来源：Clinical Genetics, 2017, 91(2): 333-338.

DOI：10.1111/cge.12794

• intellectual disability
• MAB21L1
• scrotal agenesis
• whole-exome sequencing

We report on a boy with a rare malformative association of scrotum agenesis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global development delay. The reported patient was carrying a homozygous frameshift in MAB21L1 detected by whole-exome sequencing, considered as the most likely disease-causing variant. Mab21l1 knockout mice present a strikingly similar malformative association of ophthalmological malformations of the anterior chamber and preputial glands hypoplasia. We hypothesize that MAB21L1 haploinsufficiency cause a previously undescribed syndrome with scrotal agenesis, ophthalmological anomalies, facial dysmorphism and gross psychomotor delay as remarkable hallmarks. Four cases from the literature were reported with features suggestive of a similar and recognizable clinical entity. We hypothesize that MAB21L1 should be the culprit gene in these patients.

• 出版日期2017-2
• 单位中国地震局