title: A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.
abstract: Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Affected individuals present in early infancy with seizures caused by the severe hypocalcemia and hypomagnesemia. By presenting this case report, we also aimed to highlight the need for molecular genetic analysis in inbred or familial cases with hypomagnesemia. A Turkish inbred girl, now aged six years, had presented to another hospital at age two months with seizures diagnosed to be due to hypomagnesemia. She was on magnesium replacement therapy when she was admitted to our clinic with complaints of chronic diarrhea at age 3.6 years. During her follow-up in our clinic, she showed an age-appropriate physical and neurological development. In molecular genetic analysis, a novel homozygous frame-shift mutation (c.3447delT>p.F1149fs) was identified in the TRPM6 gene. This mutation leads to a truncation of the TRPM6 protein, thereby complete loss of function. We present the clinical follow-up findings of a pediatric HSH case due to a novel mutation in the TRPM6 gene and highlight the need for molecular genetic analysis in inbred or familial cases with hypomagnesemia.
authors.affiliation: Denizli State Hospital, Clinic of Pediatric Endocrinology, Denizli, Turkey, E-mail: aycagate@yahoo.com, ayca.altincik@deu.edu.tr.
authors.forename: Ayça
authors.initials: A
authors.lastname: Altıncık
authors.forename: Karl Peter
authors.initials: KP
authors.lastname: Schlingmann
authors.forename: Mahya Sultan
authors.initials: MS
authors.lastname: Tosun
mesh_terms: D002675:Child, Preschool; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics* / Q000473:pathology; D008275:Magnesium Deficiency / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D011379:Prognosis; D050053:TRPM Cation Channels / Q000235:genetics*
chemical_list: D050053:TRPM Cation Channels; C459082:TRPM6 protein, human