Clefting

Gene: BMP4

I don't know

More than 3 cases reported in PMID 19249007, however, unaffected parents of the proband in several cases also had the variant (supplementary table). It is a confirmed DD gene for OROFACIAL CLEFT 11, however the publication provided is PMID 19249007. Seems to be a risk factor for non-syndromic cleft lip with or without cleft palate.

Created: 31 May 2017, 1:52 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MICROPHTHALMIA, SYNDROMIC 6; MCOPS6, OROFACIAL CLEFT 11; OFC11

Publications

• 19249007
• Risk factor studies - 28133786
• 27591802
• 26424980
• 26424979
• 25648829
• 25471993

Comment on list classification: Changed status from Amber to Red- association studies only and from comments from expert reviewer and in-house clinical team.

Created: 20 Mar 2017, 10:28 a.m.

The BMP4 gene has been suggested as a candidate gene for non-syndromic CL/CLP and CP because of its role in the regulation of skeletal development including cartilage and bone formation during craniofacial and limb development (PMID:15694398).

Several association studies have been conducted across different populations to identify genetic variants of the BMP4 gene which could be associated in the pathogenesis of non-syndromic CL/CLP or CP in humans (PMID: 21331089,18771417,19249007,19839778). After in house clinical team review of this gene, it was noted the evidence only came only from association studies, therefore this gene should be red or amber, as a variant in this gene would not provide a diagnosis. Changed status from Amber to Red.

Created: 20 Mar 2017, 10:27 a.m.

Publications

• 21331089
• 18771417
• 19249007
• 19839778
• 22978696
• 27591802

Red List (low evidence)