Ontology highlight
ABSTRACT:
SUBMITTER: Cho SY
PROVIDER: S-EPMC4908150 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Cho Sung Yoon SY Bae Jun-Seok JS Kim Nayoung K D NKD Forzano Francesca F Girisha Katta Mohan KM Baldo Chiara C Faravelli Francesca F Cho Tae-Joon TJ Kim Dongsup D Lee Kyoung Yeul KY Ikegawa Shiro S Shim Jong Sup JS Ko Ah-Ra AR Miyake Noriko N Nishimura Gen G Superti-Furga Andrea A Spranger Jürgen J Kim Ok-Hwa OH Park Woong-Yang WY Jin Dong-Kyu DK
American journal of human genetics 20160526 6
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 Itali ...[more]