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.; Lerena, J.; Aslanger, Ayça; Koseki, H.; Cohn, D.; Superti-Furga, A.; Unger, S.; Ikegawa, S.

doi:10.1136/jmg.2008.065201

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

Atıf İçin Kopyala

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)

Yayın Türü: Makale / Kısa Makale
Cilt numarası: 46 Sayı: 8
Basım Tarihi: 2009
Doi Numarası: 10.1136/jmg.2008.065201
Dergi Adı: Journal of medical genetics
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.562-8
İstanbul Üniversitesi Adresli: Evet

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.