ATOH7 gene

Overview

Gene (OMIM No.)	ATOH7 (#609875)
Function of gene/protein	Protein: Atonal bHLH transcription factor 7 Involved in the development of photoreceptors, retinal ganglion cells and optic nerve Regulates other genes by binding to specific DNA regions (transcription factor)
Clinical phenotype (OMIM phenotype no.)	Persistent hyperplastic primary vitreous, autosomal recessive (#221900)
Inheritance	Autosomal recessive
Ocular features	Microphthalmia, anophthalmia, coloboma (MAC) spectrum Cataracts Glaucoma Persistent fetal vasculature (present as leukocoria) Retinal detachment
Systemic features	No extraocular anomalies
Key investigations	B-scan USS to measure axial length to document microphthalmia and detect any posterior segment abnormalities if cataract is present 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

Brown NL, Dagenais SL, Chen CM, Glaser T. Molecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell development. Mamm Genome. 2002;13(2):95‐101
Brown NL, Patel S, Brzezinski J, Glaser T. Math5 is required for retinal ganglion cell and optic nerve formation. Development. 2001;128(13):2497‐2508
Prasov L, Masud T, Khaliq S, et al. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Hum Mol Genet. 2012;21(16):3681‐3694
Khan K, Logan CV, McKibbin M, et al. Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Hum Mol Genet. 2012;21(4):776‐783

Updated on November 30, 2020