Limb disorders

Gene: FAM92A

I don't know

Comment on list classification: Promoted from red to amber. 1 case plus a mouse knockout showing a similar phenotype.

Created: 7 Aug 2019, 3:38 p.m. | Last Modified: 7 Aug 2019, 3:38 p.m.

Panel Version: 1.53

Provisionally associated with ?Polydactyly, postaxial, type A9 (#618219) in OMIM.

PMID: 30395363 - Schrauwen et al. 2018 - 1 case. They report a consanguineous Pakistani family with 3 children with autosomal recessive nonsyndromic postaxial polydactyly type A with a homozygous nonsense variant (NM_001283034.1:c.478C>T, NP_001269963.1: p.[Arg160*]) in the FAM92A gene. It was confirmed that this variant segregates with PAPA. The c.478C>T variant (rs368652620) was observed in the gnomAD database with a very low MAF in the exome data (all populations MAF=2.04×10−5, South East Asians MAF=6.55×10−5 and no homozygous individuals observed and ) and was also not present in Sanger sequence data from 186 in-house control Pakistani DNAs. In mouse studies, FAM92A is expressed in the developing mouse limb and Fam92a−/− homozygous mice also exhibit an abnormal digit morphology, including metatarsal osteomas and polysyndactyly, in addition to distinct abnormalities on the deltoid tuberosity of their humeri.

Created: 7 Aug 2019, 3:37 p.m. | Last Modified: 26 Nov 2019, 12:59 a.m.

Panel Version: 1.126

Sources: Literature

Created: 7 Aug 2019, 1:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
postaxial polydactyly type A9

Publications

• 30395363