A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation

Eur J Med Genet. 2015 Aug;58(8):387-91. doi: 10.1016/j.ejmg.2015.06.003. Epub 2015 Jun 23.

Abstract

We describe a novel recognizable phenotype characterized by anophthalmia, a distinctive skeletal dysplasia and intellectual disability. Radiographic anomalies include severe rhizomelic shortness of the limbs and abnormal joint formation. Recent exome studies showed that these characteristics are part of the phenotypic spectrum of MAB21L2 gene mutations which cause a range of structural eye malformations such as microphthalmia/anophthalmia and ocular coloboma. The two unrelated individuals described here in detail are heterozygous carriers of the same de novo missense mutation c.151C > T (p.Arg51Cys) in MAB21L2.

Keywords: Anophthalmia; Intellectual disability; MAB21L2; Rhizomelia.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Anophthalmos / diagnosis
  • Anophthalmos / genetics*
  • Anophthalmos / pathology
  • Bone Diseases, Developmental / diagnosis
  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / pathology
  • Exome
  • Eye Proteins / genetics*
  • Female
  • Gene Expression
  • Heterozygote
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Syndrome

Substances

  • Eye Proteins
  • Intracellular Signaling Peptides and Proteins
  • MAB21L2 protein, human