MAB21L2 gene

Overview

Gene (OMIM No.)	MAB21L2 (#604357)
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
Inheritance	Autosomal dominant Autosomal recessive in one family
Ocular features	Microphthalmia, anophthalmia, coloboma (MAC) spectrum Microcornea Cataract Corectopia Nystagmus
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 diagnosis	Next generation sequencing Targeted gene panels (MAC) Whole genome sequencing
Management	Ocular Management of MAC Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	OMIM

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
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
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

Updated on November 30, 2020