2. Academic Validation
  3. Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

  • Clin Genet. 2017 Feb;91(2):333-338. doi: 10.1111/cge.12794.
A-L Bruel 1 2,  A Masurel-Paulet 1 3,  J-B Rivière 1 2,  Y Duffourd 1 2,  D Lehalle 1 2 3,  C Bensignor 4,  F Huet 4,  J Borgnon 5,  F Roucher 6,  P Kuentz 1 2,  J-F Deleuze 7,  C Thauvin-Robinet 1 2 3,  L Faivre 1 2 3,  J Thevenon 1 2 3
Affiliations

Affiliations

  • 1 Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.
  • 2 Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
  • 3 Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est, Centre Hospitalier Universitaire Dijon, Dijon, France.
  • 4 Service de Pédiatrie, Centre Hospitalier Universitaire Dijon, Dijon, France.
  • 5 Chirurgie Pédiatrique, Centre Hospitalier Universitaire Dijon, Dijon, France.
  • 6 Endocrinologie Moléculaire et Maladies Rares, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France.
  • 7 CEA/Institut de Génomique, Centre National de Génotypage, Evry, France.
PMID: 27103078 DOI: 10.1111/cge.12794
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; intellectual disability; scrotal agenesis; whole-exome sequencing.

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