Ontology highlight
ABSTRACT:
SUBMITTER: Brancati F
PROVIDER: S-EPMC6117343 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Brancati Francesco F Camerota Letizia L Colao Emma E Vega-Warner Virginia V Zhao Xiangzhong X Zhang Ruixiao R Bottillo Irene I Castori Marco M Caglioti Alfredo A Sangiuolo Federica F Novelli Giuseppe G Perrotti Nicola N Otto Edgar A EA
European journal of human genetics : EJHG 20180611 9
A rare syndrome was first described in 1997 in a 17-year-old male patient presenting with Retinitis pigmentosa, HYpopituitarism, Nephronophthisis and Skeletal dysplasia (RHYNS). In the single reported familial case, two brothers were affected, arguing for X-linked or recessive mode of inheritance. Up to now, the underlying genetic basis of RHYNS syndrome remains unknown. Here we applied whole-exome sequencing in the originally described family with RHYNS to identify compound heterozygous variant ...[more]