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.

中文翻译：

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由16q12.2q21微缺失揭示的SLC12A3中新的半等位基因错义突变引起的吉特曼综合征。

吉特曼综合症（GS）由SLC12A3中的双等位基因突变引起，是常染色体隐性遗传。从头进行16q12.2q21微缺失的患者表现出GS的临床特征。分析了缺失中包括的SLC12A3，并鉴定了罕见的错义变体（c.1222A> C [p.N406H]）为半合子。因此，GS是由于染色体微缺失所揭示的SLC12A3变体引起的。