Prepair 1000+

Gene: MGP

Green List (high evidence)

Keutel syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification. Skeletal changes and cartilage ossification may be visible on fetal ultrasound.

Multiple families, mouse model.

Four individuals from two unrelated families with two heterozygous variants in MGP, both altering the cysteine 19 residue to phenylalanine (C19F) or tyrosine (C19Y):
Family 1 (NM_000900.3:c.56G>T:p.C19F) - affected parent and two affected children harbour the variant. Third unaffected child does not harbour the variant.
Family 2 (NM_000900.3:c.56G>A:p.C19Y) - de novo variant in affected proband.

Phenotype of spondyloepiphyseal skeletal dysplasia characterized by short stature with a short trunk, diffuse platyspondyly, midface retrusion, progressive epiphyseal anomalies and brachytelephalangism.

Functional evidence to support hypothesis - heterozygous ‘knock-in’ mice expressing C19F MGP recapitulate most of the skeletal anomalies observed in the affected individuals.

Created: 21 Nov 2024, 2:57 a.m. | Last Modified: 21 Nov 2024, 2:57 a.m.

Panel Version: 1.579

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Keutel syndrome MIM#245150

Publications

• 37675773