BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

Sung Yoon Cho, Jun Seok Bae, Nayoung K.D. Kim, Francesca Forzano, Katta Mohan Girisha, Chiara Baldo, Francesca Faravelli, Tae Joon Cho, Dongsup Kim, Kyoung Yeul Lee, Shiro Ikegawa, Jong Sup Shim, Ah Ra Ko, Noriko Miyake, Gen Nishimura, Andrea Superti-Furga, Jürgen Spranger, Ok Hwa Kim, Woong Yang Park, Dong Kyu Jin

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31 Citations (Scopus)


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-β) 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-β. 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.

Original languageEnglish
Pages (from-to)1243-1248
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number6
Publication statusPublished - 02-06-2016

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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