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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
Cho, S.Y.,Bae, J.S.,Kim, N.K.D.,Forzano, F.,Girisha, K.M.,Baldo, C.,Faravelli, F.,Cho, T.J.,Kim, D.,Lee, K.Y.,Ikegawa, S.,Shim, J.S.,Ko, A.R.,Miyake, N.,Nishimura, G.,Superti-Furga, A.,Spranger, J.,Ki University of Chicago Press [etc.] 2016 American journal of human genetics Vol.98 No.6
<P>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-beta) 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-beta. 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.</P>