Open AccessGenetic testing for Bardet-Biedl syndrome
Author(s) -
Andi Abeshi,
Francesca Fanelli,
Tommaso Beccari,
Munis Dündar,
Fabiana D’Esposito,
Matteo Bertelli
Publication year - 2017
Publication title -
the eurobiotech journal
Language(s) - English
Resource type - Journals
ISSN - 2564-615X
DOI - 10.24190/issn2564-615x/2017/s1.04
Subject(s) - bardet–biedl syndrome , genetic diagnosis , genetic testing , genetics , disease , genetic counseling , differential diagnosis , medicine , pediatrics , biology , gene , phenotype , pathology
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Bardet- Biedl syndrome (BBS). The disease has autosomal recessive inheritance, a prevalence varying from one in 13 500 to one in 160 000, and is caused by mutations in the ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290, IFT172, IFT27, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TRIM32, TTC8 and WDPCP genes. The clinical diagnosis of BBS is based on four primary features or three primary features plus two secondary features. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.