Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion.
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ABSTRACT:
SUBMITTER: Abe Y
PROVIDER: S-EPMC7253428 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
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Gitelman syndrome caused by a novel hemiallelic missense mutation in <i>SLC12A3</i> revealed by 16q12.2q21 microdeletion.
Abe Yuki Y Yamamoto Toshiyuki T Izumita Yukie Y Tsukano Shinya S
Human genome variation 20200527
Gitelman syndrome (GS) is caused by biallelic mutations in <i>SLC12A3</i> as an autosomal recessive trait. A patient with a de novo 16q12.2q21 microdeletion showed clinical features of GS. <i>SLC12A3</i> included in the deletion was analyzed, and a rare missense variant (c.1222A>C [p.N406H]) was identified as hemizygous. Consequently, GS was caused by the revealed <i>SLC12A3</i> variant owing to chromosomal microdeletion. ...[more]
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