BEYZA AYDİN, SEZİN CANBEK, CEREN BİBİNOĞLU AMİROV
Demiroğlu Bilim Üniversitesi Florence Nightingale Tıp Dergisi - 2024;10(1):18-25
The TTN gene encodes the largest human protein (OMIM 188840). It is known pathogenic variants in this gene can lead to cardiomyopathy and muscle diseases. Mutations in this gene can also occur during the congenital period. According to OMIM data, the diseases that can be identified by the mutation type in our study include muscular dystrophy, limb-girdle, autosomal recessive 10, and Salih myopathy. In this study, the TTN NM_001267550.2:c.32676del frameshift variant was identified as homozygous in the patient. This homozygous mutation, which has been retained in the patient, is manifested in the family as carrier status. The patient’s family is asymptomatic. In this case report, a 21-month-old male patient applied to the pediatric neurology clinic with complaints of delayed motor-milestones and difficulty in walking. Clinical exome sequencing, next-generation sequencing, and Sanger analyses were used as methods in the analysis. Although the mutation observed in the patient is listed as likely pathogenic in ClinVar, we did not encounter this exact mutation in the literature.
