ISSN: 1308-5727 | E-ISSN: 1308-5735
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Turkish Society for Pediatric Endocrinology and Diabetes
A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2016; 8(1): 101-104 | DOI: 10.4274/jcrpe.2254

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

Ayça Altıncık1, Karl Peter Schlingmann2, Mahya Sultan Tosun3
1Denizli State Hospital, Clinic Of Pediatric Endocrinology, Denizli, Turkey
2University Children’S Hospital, Clinic Of General Pediatrics, Münster, Germany
3Denizli State Hospital, Clinic Of Pediatric Gastroenterology, Denizli, Turkey

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.

Keywords: hypocalcemia,hypomagnesemia,infantile seizures,transient receptor potential melastatin 6

Ayça Altıncık, Karl Peter Schlingmann, Mahya Sultan Tosun. A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report. J Clin Res Pediatr Endocrinol. 2016; 8(1): 101-104
Manuscript Language: English
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