Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.

doi:10.1038/5102

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Article

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.

Nature genetics - 1 Jan 1999

Munroe P B, Olgunturk R O, Fryns J P, Van Maldergem L, Ziereisen F, Yuksel B, Gardiner R M, Chung E

Abstract excerpt

Keutel syndrome (KS, MIM 245150) is an autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and midfacial hypoplasia. A genome search using homozygosity mapping provided evidence of linkage to chromosome 12p12.3-13.1 (maximum multipoint lod...

Topics

Abnormalities, Multiple
Calcium-Binding Proteins
Chromosome Deletion
Chromosomes, Human, Pair 12
Extracellular Matrix Proteins
Female
Humans
Male
Mutation
Pedigree
Syndrome
Matrix Gla Protein

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