Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. (22nd May 2014)

• Record Type: Journal Article
• Authors: Vorster, A.A.; Beighton, P.; Ramesar, R.S.
• Is Part Of: Clinical genetics. Volume 87:Number 5(2015:May)
• Page Start: 492
• Page End: 495
• Publication Date: 2014-05-22
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12413
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12413-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12413-para-0001">Spondyloepimetaphyseal dysplasia with joint laxity (SEMD‐JL), type 1 is an autosomal recessive disorder which has been identified in more than 30 affected children in the Afrikaans‐speaking community of South Africa. Sequencing of <italic>B3GALT6</italic> revealed a specific mutation, c.235A > G, in homozygous form in four families, while three others were compound heterozygotes for this mutation in combination with the c.200C > T mutation. In addition, a proband from one family carried the c.16C > T mutation combined with c.200C > T. In a series of five Iranian persons, mutations in <italic>B3GALT6</italic> have been implicated in a syndrome characterised by skeletal abnormalities with intellectual disability, bone and connective tissue fragility. Other mutations in <italic>B3GALT6</italic> resulted in the classical SEMD‐JL phenotype in seven Japanese families and in a syndrome which has been likened to a progeroid form of Ehlers–Danlos syndrome (EDS). It is evident that there is considerable intragenic heterogeneity in <italic>B3GALT6</italic>. One of the mutations, c.200C > T, in the affected South Africans was also present in one of the Japanese persons and the respective phenotypes were identical. The multiplicity of allelic mutations and the phenotypic differences in the affected persons supports the concept that a spectrum of connective tissue disorders is programmed by mutations in <italic>B3GALT6</italic>.</p> </abstract>