Clefting

Gene: B4GALT7

I don't know

Cleft palate is not a consistent feature that is reported in patients with biallelic variants in B4GALT7 gene. However, there are three unrelated cases reported with cleft palate.

PMID:24755949 - One of 22 patients identified with homozygous p.Arg270Cys variant in B4GALT7 gene had a cleft palate.
PMID:26940150 - One of two patients reported in this publication from DDD study with compound heterozygous variants (p.His93Profds*73 & p.Cys2145Tyr) had cleft palate.
PMID:31278392 - One patient and affected third pregnancy with compound heterozygous variants (p.Gln133Arg & p.Arg270Cys) and cleft palate was reported in this family.

Created: 14 Jun 2023, 3:32 p.m. | Last Modified: 15 Jun 2023, 7:03 p.m.

Panel Version: 4.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070

Publications

• 24755949
• 26940150
• 31278392

I don't know

Cleft palate described as a rare feature of Ehlers-Danlos syndrome with short stature and limb anomalies. Confirmed DD gene for EHLERS-DANLOS SYNDROME PROGEROID TYPE, and clefting is not a captured phenotype. PMID: 24755949 one patient in 22 with homozygous p.R270C mutation B4GALT7 deficiency had a cleft palate. PMID 26940150 - one patient of 5 reported as having a cleft palate. In PMID 26086840 clefting not mentioned as a feature in Patients With Linkeropathies. PMID: 27827381 - cleft palate is a less frequent feature of B4GALT7-defective congenital disorder of glycosylation. Clefting not mentioned within the table of Clinical Features in Patients With Deleterious Sequence Variants in B4GALT7 in PMID: 27320698 (7 patients).

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA

Publications

• 24755949