Limb disorders

Gene: BMP4

Comment when marking as ready: rated green as 3 cases reported

Created: 17 Oct 2018, 2:44 p.m.

Comment on list classification: 3 cases with plausible disease causing variants in the gene have been reported.

Created: 17 Oct 2018, 2:40 p.m.

BMP4 is associated with Microphthalmia, syndromic 6 in OMIM and Gene2Phenotype (confirmed). This syndrome is characterized by microphthalmia with brain and digital anomalies.

OMIM reports the Bakrania et al. (2008)(PMID: 18252212) found a kindred in which members of 3 generations had eye, brain, and digit developmental anomalies including postaxial polydactyly related to a frameshift mutation in the BMP4 gene (222del2AG, S76fs104X).

Bakrania et al also report a a patient with eye, brain, and digit developmental anomalies (low-placed thumbs) with a 278A-G transition in the BMP4 gene that resulted in a glu93-to-gly substitution (E93G)

Reis et al. (2011) (PMID: 21340693) report a Caucasian girl with Microphthalmia, syndromic 6 and 1-bp duplication in exon 2 of the BMP4 gene (171dupC) . She did not show any limb abnormalities, but her maternal half sister was found to be compound heterozygous for 171dupC and a 362A-G transition in exon 2 of BMP4, resulting in a his121-to-arg (H121R; 112262.0009) substitution at a conserved residue did show bilateral postaxial polydactyly of the hands among other features.

Created: 17 Oct 2018, 2:35 p.m.