BGN mutations in X-Linked spondyloepimetaphyseal dysplasia

Girisha, KM (2016) BGN mutations in X-Linked spondyloepimetaphyseal dysplasia. The American Journal of Human Genetics, 98 (6). pp. 1243-1248. ISSN 0002-9297

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Abstract

Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported.We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern. Exome sequencing showed missense mutations in BGN c.439A>G (p.Lys147Glu) in the Korean family and c.776G>T (p.Gly259Val) in the Italian family; the c.439A>G (p.Lys147Glu) mutation was also identified in a further simplex SEMD case from India. Biglycan is an extracellular matrix proteoglycan that can bind transforming growth factor beta (TGF-b) and thus regulate its free concentration. In 3-dimensional simulation, both altered residues localized to the concave arc of leucine-rich repeat domains of biglycan that interact with TGF-b. The observation of recurrent BGN mutations in XLR SEMD individuals from different ethnic backgrounds allows us to define ‘‘XLR SEMD, BGN type’’ as a nosologic entity.

Item Type: Article
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 19 Jul 2016 14:52
Last Modified: 19 Jul 2016 14:52
URI: http://eprints.manipal.edu/id/eprint/146658

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