Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report.
World J Clin Cases
; 12(14): 2445-2450, 2024 May 16.
Article
in En
| MEDLINE
| ID: mdl-38765743
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. CASESUMMARY:
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
World J Clin Cases
Year:
2024
Document type:
Article
Affiliation country:
China