Ontology highlight
ABSTRACT:
SUBMITTER: Janecke AR
PROVIDER: S-EPMC5384969 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Janecke Andreas R AR Xu Ruijuan R Steichen-Gersdorf Elisabeth E Waldegger Siegfried S Entenmann Andreas A Giner Thomas T Krainer Iris I Huber Lukas A LA Hess Michael W MW Frishberg Yaacov Y Barash Hila H Tzur Shay S Schreyer-Shafir Nira N Sukenik-Halevy Rivka R Zehavi Tania T Raas-Rothschild Annick A Mao Cungui C Müller Thomas T
Human mutation 20170306 4
We identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome (CNS) diagnosed in the first days of life, of hypogonadism, and of prenatally detected adrenal calcifications, associated with congenital adrenal insufficiency in one case. Using exome sequencing and targeted Sanger sequencing, two homozygous truncating mutations, c.1513C>T (p.Arg505*) and c.934delC (p.Leu312Phefs*30), were identified in SGPL1-encoding sphingo ...[more]