omodysplasia 1

omodysplasia 12016-12-03T07:46:01+00:00

omodysplasia 1 

GENETICS

A rare autosomal recessive skeletal dysplasia (OMIM:258315) characterised by severe congenital micromelia with shortening and distal tapering of the humeri and femora and a club-like appearance. Typical facies include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin.

Molecular pathology Defects in GPC6, which encodes glypican 6, a cell surface proteoglycan cause omodysplasia 1.

Molecular changes include: point mutations of GPC6 leading  to protein truncation and larger genomic rearrangements resulting in exon deletions. All mutations in omodysplasia 1 can lead to absence of functional glypican 6.

Synonyms Autosomal recessive omodysplasia, micromelic dysplasia—congenital—with displocation of radius, omodysplasia—autosomal recessive, omodysplasia—generalised form

References http://www.uniprot.org/uniprot/Q9Y625

http://www.omim.org/entry/258315 

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