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Gitelman syndrome (GS) is caused by biallelic mutations in  SLC12A3  as an autosomal recessive trait. A patient with a de novo 16q12.2q21 microdeletion showed clinical features of GS.  SLC12A3  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  SLC12A3  variant owing to chromosomal microdeletion.

Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion