Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in <i>CX3CR1</i> in a Large Multi-Generation Family

Feldman G. J., Parvizi J., Sawan H., Erickson J. A., Peters C. L.

JOURNAL OF ARTHROPLASTY, cilt.29, sa.9, ss.238-241, 2014 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 9
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/j.arth.2014.05.014
  • Dergi Adı: JOURNAL OF ARTHROPLASTY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.238-241
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

Developmental dysplasia of the hip (DDH) is a crippling condition that affects children and adults, with an average incidence of 1-1.5 cases per 1000 live births. It results in disabling arthritis of the hip in up to 60% patients in the 20-40 year age group. There is no accurate diagnostic test available for newborns. The purpose of our study is to develop a sensitive and specific genetic test for DDH by identifying causative mutations. Linkage analysis and whole exome sequencing of 4 severely affected individuals of a 4 generation 71 member family was performed. The damaging rs3732378 variant in the CX3CR1 chemokine receptor was shared by all affected family members and by 15% of 28 sporadic dysplastics. (C) 2014 Elsevier Inc. All rights reserved.