PAPSS2 mutations cause autosomal recessive brachyolmia

Miyake N., Elcioglu N. H., Iida A., Isguven P., Dai J., Murakami N., ...More

JOURNAL OF MEDICAL GENETICS, vol.49, no.8, pp.533-538, 2012 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49 Issue: 8
  • Publication Date: 2012
  • Doi Number: 10.1136/jmedgenet-2012-101039
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.533-538
  • Marmara University Affiliated: Yes

Abstract

Background Brachyolmia is a heterogeneous group of skeletal dysplasias that primarily affects the spine. Clinical and genetic heterogeneity have been reported; at least three types of brachyolmia are known. TRPV4 mutations have been identified in an autosomal dominant form of brachyolmia; however, disease genes for autosomal recessive (AR) forms remain totally unknown. We conducted a study on a Turkish family with an AR brachyolmia, with the aim of identifying a disease gene for AR brachyolmia.