Anophthalmia_Microphthalmia_Coloboma

Gene: PAX6

Green List (high evidence)

Variants in PAX6 cause a range of eye phenotypes.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Multiple families reported with coloboma.

Created: 27 Dec 2020, 11:18 p.m. | Last Modified: 27 Dec 2020, 11:18 p.m.

Panel Version: 0.121

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia; Coloboma, ocular, MIM# 120200

Publications

• 31700164
• 30986449
• 29930474
• 22171686