[Clinical features and TRPM6 mutations of an infant with hypomagnesemia with secondary hypocalcemia]

Area of Science:

• Genetics
• Molecular Biology
• Pediatric Medicine

Background:

• Hypomagnesemia and secondary hypocalcemia are serious conditions in infants.
• The TRPM6 gene plays a crucial role in magnesium transport.
• Genetic mutations in TRPM6 are a known cause of these electrolyte imbalances.

Purpose of the Study:

• To investigate the clinical presentation of an infant with hypomagnesemia and secondary hypocalcemia.
• To identify the underlying genetic cause, specifically mutations in the TRPM6 gene.

Main Methods:

• Collected clinical data from the affected infant.
• Extracted genomic DNA from the patient and her parents.
• Performed targeted exome sequencing to detect gene mutations.
• Confirmed suspected mutations using Sanger sequencing.

Main Results:

• Identified a novel homozygous c.5538delA (p.Q1846Qfs*2) mutation in the TRPM6 gene in the infant.
• Confirmed that both parents were heterozygous carriers of this mutation.

Conclusions:

• The identified homozygous frameshift mutation in the TRPM6 gene is likely responsible for the infant's condition.
• This discovery broadens the spectrum of known TRPM6 gene mutations associated with disease.