Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature

Abstract

Mutations in the FKRP gene result in phenotypes with severe forms of congenital muscular dystrophies (CMD) and limb-girdle muscular dystrophies. We present a Mexican patient with a pathogenic homozygous mutation in the FKRP gene (c.1387A > G, p.Asn463Asp) and CMD with radiological brain anomalies as disseminated hyperintensity lesions and discrete generalized cortical atrophy. These findings have not been reported to the best of our knowledge in other patients with the same mutation. The mutation c.1387A > G, p.Asn463Asp in the FKRP gene has been described to have a founder effect in central Mexico, since all the patients described to date are of Hispanic origin. Therefore, we emphasize studying mutations in the FKRP gene in Hispanic pediatric patients with clinical suspicion of CMD. Clinical and molecular diagnosis of specific CMD subtypes is needed to help clarify the prognosis, management, and genetic counseling to the patient and families.

The congenital muscular dystrophies

“…However, the clinical diagnostic yield varies from 40% to 60%, possibly due to unknown causative genes. 1,[10][11][12][13][14][15]18,26,27,[76][77][78][79][80][81][82]…”

“…Molecular genetic tests, including multiplex ligation‐dependent probe amplification, Sanger sequencing, and next‐generation sequencing, specifically whole‐exom sequencing, are used for diagnosis. However, the clinical diagnostic yield varies from 40% to 60%, possibly due to unknown causative genes 1,10–15,18,26,27,76–82 …”