Article
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Human mutation - 1 Apr 2017
Janecke Andreas R, Xu Ruijuan, Steichen-Gersdorf Elisabeth, Waldegger Siegfried, Entenmann Andreas, Giner Thomas, Krainer Iris, Huber Lukas A, Hess Michael W, Frishberg Yaacov, Barash Hila, Tzur Shay, Schreyer-Shafir Nira, Sukenik-Halevy Rivka, Zehavi Tania, Raas-Rothschild Annick, Mao Cungui, Müller Thomas
Abstract excerpt
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...
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