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Gene: B3GALT6

Green List (high evidence)

Bi-allelic variants in this gene cause severe skeletal/connective tissue phenotypes, including IUGR, cleft palate, joint contractures.

Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Bone fragility with multiple early-onset fractures reported.

One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229).
In 12 patients from 9 families with EDSSPD2, 8 compound heterozygous mutations and 1 homozygous mutation in B3GALT6 were identified, including 11 missense variants, 2 frameshift variants, a deletion of 19 amino acids, and a start codon alteration (PMID: 29931299).

Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality.

Created: 9 Aug 2024, 5:23 a.m. | Last Modified: 9 Aug 2024, 5:23 a.m.

Panel Version: 1.142

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Al-Gazali syndrome(MIM#609465); Ehlers-Danlos syndrome, spondylodysplastic type, 2(MIM#615349); Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures(MIM#271640)

Publications

• 23664117
• 29931299
• 29443383
• 23664118
• 28306229
• 25149931