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

Autor:	Julián García-Sánchez, Julia Enterría-Rosales, Juan José Juárez-Vignon-Whaley, Jaime Cervera-Gaviria, Rodrigo Treviño-Velasco, Marivi Cervera-Gaviria
Rok vydání:	2021
Předmět:	Pathology medicine.medical_specialty business.industry Genetic counseling medicine.disease Phenotype Hyperintensity Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Congenital muscular dystrophy medicine business Gene Founder mutation Genetics (clinical) Founder effect
Zdroj:	Journal of Pediatric Genetics.
ISSN:	2146-460X 2146-4596
DOI:	10.1055/s-0041-1726470
Popis:	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.
Databáze:	OpenAIRE
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