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
Makaleler > Tam Makale · 2015
Yazarlar: Aslı ECE SOLMAZ, HÜSEYİN ONAY, Tahir ATİK, Ayça AYKUT, Meltem Cerrah Gunes, Ozge Ozalp Yuregır, Veysel Nijat Bas, Filiz Hazan, Ozgur Kırbıyık, Feriştah Ferda ÖZKINAY
EUROPEAN JOURNAL OF MEDICAL GENETICS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2015, cilt 58, ss 689-694
DOI: 10.1016/j.ejmg.2015.10.011
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 Recently sequential gene sequencing has been replaced by next generation sequencing (NGS) applications.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).