A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report

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 pr...

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Bibliographic Details
Published in:Journal of clinical research in pediatric endocrinology 2016-03, Vol.8 (1), p.101-104
Main Authors: Altıncık, Ayça, Schlingmann, Karl Peter, Tosun, Mahya Sultan
Format: Article
Language:English
Subjects:
Case Report
Case studies
Child, Preschool
Diagnosis
Female
Frameshift Mutation - genetics
Gene mutation
Genetic aspects
Genetic Predisposition to Disease
Heterozygote
Homozygote
Humans
Hypocalcemia - genetics
Hypocalcemia - pathology
Magnesium Deficiency - congenital
Magnesium Deficiency - genetics
Magnesium Deficiency - pathology
Neonatal diseases
Prognosis
TRPM Cation Channels - genetics
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Description
Summary: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.
ISSN:1308-5727
1308-5735
DOI:10.4274/jcrpe.2254