Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

Harville H. M., Held S., Diaz-Font A., Davis E. E., Diplas B. H., Lewis R. A., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.47, sa.4, ss.262-267, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 4
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1136/jmg.2009.071365
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.262-267
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background BardeteBiedl syndrome (BBS) is primarily an autosomal recessive disorder characterised by the five cardinal features retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity and hypogenitalism. In addition, renal cysts and other anomalies of the kidney and urinary tract can be present. To date, mutations in 12 BBS genes as well as in MKS1 and CEP290 have been identified as causing BBS. The vast genetic heterogeneity of BBS renders molecular genetic diagnosis difficult in terms of the time and cost required to screen all 204 coding exons.