Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report

Abstract

BACKGROUND

We report a rare case of primary clinical presentation featuring elevated creatine kinase (CK) levels in a neonate, which is associated with the LAMA2 gene. In this case, a heterozygous mutation in exon5 of the LAMA2 gene, c.715C>G (resulting in a change of nucleotide number 715 in the coding region from cytosine to guanine), induced an amino acid alteration p.R239G (No. 239) in the patient, representing a missense mutation. This observation may be elucidated by the neonatal creatine monitoring mechanism, a phenomenon not previously reported.

CASE SUMMARY

We analysed the case of a neonate presenting solely with elevated CK levels who was eventually discharged after supportive treatment. The chief complaint was identification of increased CK levels for 15 d and higher CK values for 1 d. Admission occurred at 18 d of age, and despite prolonged treatment with creatine and vitamin C, the elevated CK levels showed limited improvement. Whole exome sequencing revealed the presence of a c.715C>G mutation in LAMA2 in the newborn, correlating with a clinical phenotype. However, the available information offers insufficient evidence for clinical pathogenicity.

CONCLUSION

Mutations in LAMA2 are associated with the clinical phenotype of increased neonatal CK levels, for which no specific treatment exists. Whole genome sequencing facilitates early diagnosis.

Keywords: Creatine kinase, LAMA2, Gene mutation, Neonate, Case report

Core Tip: We analyzed the case of a neonate who appeared with only elevated creatine kinase (CK) and eventually was discharged after supportive treatment. The age of admission was 18 d, and the increased CK did not improve significantly after prolonged treatment with creatine and vitamin C. Whole exome sequencing identified the mutation of c.715C>G on LAMA2 in the newborn, which is associated with clinical phenotype.