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GENATLAS PHENOTYPE

last update : 13-12-2019

Symbol	SEDMA
Location	15q26.1
Name	spondyloepiphyseal dysplasia, Kimberley type
Corresponding gene	ACAN
Other symbol(s)	SEDK
Main clinical features	proportionate short stature (below the fifth centile for age), with a stocky habitus and progressive osteoarthropathy of the weight-bearing joints; radiographically, there was prominent endplate irregularity and sclerosis of the vertebral bodies, and generalized epiphyseal changes mild and variable mild form with severe arthropathy including multiple epipphyseal dysplasia with macrocephaly and distinctive facies
Genetic determination	autosomal dominant
	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Gene product

Name

aggrecan

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
frameshift		truncated protein	introduction of 21 cysteine residues, followed by a premature stop codon within the CS1 domain

Remark(s)

mutation affecting the C-Type Lectin domain, associated to extreme short stature, which results from homozygosity for a missense mutation affecting the G3 domain