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J Pediatr Genet 2023; 12(03): 237-241
DOI: 10.1055/s-0041-1726470
Case Based Review

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

Marivi Cervera-Gaviria
1   Department of Genetics, The American British Cowdray Hospital, Mexico City, Mexico
,
Julia Enterría-Rosales
2   School of Medicine, Instituto Tecnológico de Monterrey, Monterrey, Mexico
,
Juan José Juárez-Vignon-Whaley
3   School of Medicine, Anáhuac University Mexico, Mexico City, Mexico
,
Julián García-Sánchez
3   School of Medicine, Anáhuac University Mexico, Mexico City, Mexico
,
Rodrigo Treviño-Velasco
3   School of Medicine, Anáhuac University Mexico, Mexico City, Mexico
,
Jaime Cervera-Gaviria
4   Department of Internal Medicine, Sociedad de Beneficiencia Española CDMX, Mexico City, Mexico
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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.

Keywords

FKRP gene - congenital muscular dystrophy - founder mutation

Note

All procedures performed in the studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standard.




Publication History

Received: 12 December 2020

Accepted: 08 February 2021

Article published online:
14 April 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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