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Article Dans Une Revue Clinical Genetics Année : 2016

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Résumé

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.

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Dates et versions

hal-01405113 , version 1 (29-11-2016)

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Ange-Line Bruel, Alice Masurel-Paulet, Jean-Baptiste Rivière, Yannis Duffourd, Frédéric Huet, et al.. Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. Clinical Genetics, 2016, ⟨10.1111/cge.12794⟩. ⟨hal-01405113⟩

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