Article
Detecting pathogenic deep intronic variants in Gitelman syndrome.
American journal of medical genetics. Part A - 1 Sept 2022
Rossanti Rini, Horinouchi Tomoko, Sakakibara Nana, Yamamura Tomohiko, Nagano China, Ishiko Shinya, Aoto Yuya, Kondo Atsushi, Nagai Sadayuki, Awano Hiroyuki, Nagase Hiroaki, Matsuo Masafumi, Iijima Kazumoto, Nozu Kandai
Abstract excerpt
Gitelman syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by loss of function in the SLC12A3 gene (NM_000339.2), which encodes the natrium chloride cotransporter. The detection of homozygous or compound heterozygous SLC12A3 variants is expected in GS, but 18%-40% of patients with clinical GS carry only one mutant allele. Previous reports identified some pathogenic deep intronic...
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