Limb disorders

Gene: ALX3

Comment when marking as ready: Rated red after review of literature.

Created: 16 Oct 2018, 3:05 p.m.

Comment on list classification: Rating this gene as red as no clear evidence that ALX3 is associated with a limb disorder phenotype.

Created: 3 Oct 2018, 10:05 a.m.

ALX3 is associated with Frontonasal dysplasia 1 in OMIM and although the main features are related to the face and head, brachydactyly, clinodactyly and camptodactyly are also listed as clinical features. ALX3 is also confirmed to be associated with Frontonasal dysplasia in Gene2Phenotype with Brachydactyly syndrome and Postaxial hand polydactyly listed as part of the phenotype.

However, the only publication reporting limb disorders in patients with frontonasal dysplasia appears to be Fryburg et al 1993 (PMID: 8362915) who report a family in which the mother, 2 of her sons, and her brother had frontonasal dysplasia. The affected brother and 4 other members of the mother's sibship had postaxial polydactyly, however the authors considered postaxial polydactyly to be a separate autosomal dominant trait segregating in this family.

A search of PubMed finds the report of Lehalle et al 2017 (PMID: 29136349) who report on 6 unrelated individuals with frontonasal dysplasia and upper limb abnormalities but no candidate gene was identified from exome sequencing.

Created: 3 Oct 2018, 10:01 a.m.