Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: DPH1

I don't know

Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there are only two unrelated cases. Hence, this gene should be rated AMBER.

Created: 11 May 2023, 3:02 p.m. | Last Modified: 11 May 2023, 3:02 p.m.

Panel Version: 4.57

Sagittal craniosynostosis was reported in one of the four North American patients identified with biallelic variants (c.17T>A/ p.Met6Lys) in DPH1 gene in PMID:26220823.

A family of two affected siblings identified with recessive variants (c.374 T > C/ p.Leu125Pro) in DPH1 presented with metopic synostosis.

This gene has been associated with relevant phenotypes in OMIM (MIM #616901).

Created: 11 May 2023, 3:01 p.m. | Last Modified: 11 May 2023, 3:03 p.m.

Panel Version: 4.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901

Publications

• 26220823
• 30877278

I don't know

• A patient was described with short stature, sagittal craniosynostosis and dysmorphic features including scaphocephaly, sparse hair, multiple dental anomalies, epicanthal folds and hypoplastic toenails to harbour a homozygous missense variant in DPH1: c.17T>A; p.(Met6Lys) (born to consanguineous parents).
• A family with two affected siblings were described and one was confirmed to have metopic synostosis. They harboured a recessive c.335A>G; p.(Tyr112Cys) variant (Urreizti et al., 2020).
Sources: Literature

Created: 2 Mar 2023, 1:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal