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Article dans une revue

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Abstract : 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.
Keywords : MAB21L1 agenesis
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01405113
Contributeur : Gad - Université de Bourgogne <>
Soumis le : mardi 29 novembre 2016 - 15:15:09
Dernière modification le : vendredi 8 juin 2018 - 14:50:18

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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, Wiley, 2016, ⟨10.1111/cge.12794⟩. ⟨hal-01405113⟩

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