Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.


Furuichi T., Kayserili H., Hiraoka S., Nishimura G., Ohashi H., Alanay Y., ...Daha Fazla

Journal of medical genetics, cilt.46, sa.8, ss.562-8, 2009 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Kısa Makale
  • Cilt numarası: 46 Konu: 8
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1136/jmg.2008.065201
  • Dergi Adı: Journal of medical genetics
  • Sayfa Sayıları: ss.562-8

Özet

Background: Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal dysplasias. The radiological hallmark of SBD is the snail-like configuration of the hypoplastic iliac bone. SLC35D1 (solute carrier-35D1) is a nucleotide-sugar transporter involved in proteoglycan synthesis. Recently, based on human and mouse genetic studies, we showed that loss-of-function mutations of the SLC35D1 gene (SLC35D1) cause SBD.