A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6.
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ABSTRACT:
SUBMITTER: Goda T
PROVIDER: S-EPMC6403217 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
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A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in <i>TRPM6</i>.
Goda Takeshi T Komatsu Hiroshi H Nozu Kandai K Nakajima Hisakazu H
Human genome variation 20190306
Hypomagnesemia 1 (HOMG1) is an extremely rare disease with autosomal recessive inheritance that is caused by mutations in the transient receptor potential melastatin 6 gene (<i>TRPM6</i>). Here, we describe a pediatric HOMG1 case with novel compound heterozygous mutations of <i>TRPM6</i> (c.1483 C > T [p.Gln495*] and c.2715del [p.Trp905*]) in a 2-month-old boy who developed refractory seizures due to hypomagnesemia with secondary hypocalcemia. ...[more]
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