Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: SH3PXD2B

Red List (low evidence)

PMID:23140272 reported a family of three siblings with homozygous variants in SH3PXD2B and two of them presented with craniosynostosis.

Created: 12 May 2023, 7:35 p.m. | Last Modified: 12 May 2023, 7:35 p.m.

Panel Version: 4.92

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frank-ter Haar syndrome, OMIM:249420

Publications

• 23140272

Red List (low evidence)

• Two heterozygous variants were identified in the Clarke cohort: c.1265T>C; p.(Ile433Thr) and c.2276C>G; p.(Pro759Arg) (Clarke et al., 2018). Other documented cases are homozygous so likely incidental. - see review: doi.org/10.3390/genes14030615

Created: 2 Mar 2023, 1:34 p.m. | Last Modified: 2 Mar 2023, 1:35 p.m.

Panel Version: 3.4

I don't know

Brachycephaly; can have delayed closure of anterior fontanel. Wilson et al 2014 report a boy with MSS. Bendon et al 2012 report a family with sagittal CSS in 2 of 3 sibs. ; Review on behalf of Tracy Lester and Andrew Wilkie

Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frank-ter-har 249420, Borrone dermato-cardio-skeletal syndrome

Publications

• 23140272

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SH3PXD2B; Suggested initial gene rating: amber

Created: 5 Mar 2019, 11:21 a.m.

Comment on list classification: Clear but rare association. Clearly pathogenic variants would be worthy of clinical feedback in the context of other supportive features.

Created: 1 Feb 2016, 11:30 a.m.

Red List (low evidence)

Craniosynostosis appears to be a rare complication of Frank-ter Haar syndrome. Other features of this syndrome should be present

Created: 15 Sep 2015, 7:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frank-ter Haar syndrome

Publications

• 23140272