[Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia]

Area of Science:

• Genetics
• Molecular Biology
• Human Pathophysiology

Background:

• Hypocalcemia and hypomagnesemia are serious electrolyte imbalances.
• Understanding the genetic basis of these conditions is crucial for diagnosis and treatment.
• The TRPM6 gene is implicated in magnesium transport and homeostasis.

Purpose of the Study:

• To investigate the molecular pathogenesis of hypocalcemia secondary to hypomagnesemia in a specific pedigree.
• To identify potential genetic variants in the TRPM6 gene associated with the observed phenotype.

Main Methods:

• Sanger sequencing was employed to analyze the TRPM6 gene in the affected patient and their parents.
• In silico analysis using software tools was performed to predict the pathogenicity of identified variants.

Main Results:

• A novel homozygous variant, c.3311C>T (p.Pro1104Leu), in the TRPM6 gene was detected in the patient.
• Both parents were identified as heterozygous carriers of the c.3311C>T variant.
• Functional analysis predicted a high risk of pathogenicity for the identified TRPM6 variant.

Conclusions:

• The homozygous c.3311C>T variant in the TRPM6 gene is strongly associated with the hypocalcemia and hypomagnesemia in this patient.
• This finding elucidates the molecular etiology of the disease within the studied pedigree.
• The study highlights the importance of TRPM6 gene sequencing in diagnosing inherited disorders of mineral metabolism.