Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes


Solmaz A. , ONAY H. , ATİK T. , AYKUT A. , Gunes M. C. , YUREGIR O. O. , ...Daha Fazla

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.58, ss.689-694, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 58 Konu: 12
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.ejmg.2015.10.011
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.689-694

Özet

Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities, genital abnormalities and learning difficulties. To date, mutations in 21 different genes have been described as being responsible for BBS. Recently sequential gene sequencing has been replaced by next generation sequencing (NGS) applications. In this study, 15 patients with clinically diagnosed BBS were investigated using a next generation sequencing panel which included 17 known BBS causing genes (BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, NPHP6, WDPCP, SDCCAG8, NPHP1).