MAB21L2 gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: MAB21-like 2
  • Required for normal eye development and thought to be involved in neural development
  • Believed to be a downstream target of TBFB growth factor signalling pathway
Clinical phenotype
(OMIM phenotype no.)
  • Microphthalmia/coloboma and skeletal dysplasia syndrome (#615877)
  • Also known as microphthalmia, syndromic 14
  • Autosomal dominant
  • Autosomal recessive in one family
Ocular features
Systemic features
  • Skeletal dysplasia (contractures of large joints, hypoplastic femoral condyles, rhizomelia)
  • Intellectual disability
Key investigations
  • B-scan USS to measure axial length to document microphthalmia
  • Electrophysiology
  • MRI brain and orbit
  • Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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  1.  Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV. Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. PLoS Genet. 2015;11(2):e1005002
  2.  Horn D, Prescott T, Houge G, et al. A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation. Eur J Med Genet. 2015;58(8):387‐391
  3.  Rainger J, Pehlivan D, Johansson S, et al. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014;94(6):915‐923

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Updated on November 30, 2020
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