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Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing

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Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Insurgentes Sur 3700-C, Colonia Insurgentes-Cuicuilco, Alcaldía Coyoacán, 04530 Ciudad de Mexico, Mexico
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Maestría en Ciencias Biológicas, Posgrado en Ciencias Biológicas, Universidad Nacional Autónoma de Mexico, Edificio D, primer piso, Circuito de Posgrados, Ciudad Universitaria, Alcaldía Coyoacán, 04510 Ciudad de Mexico, Mexico
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Servicio de Neurología Pediátrica, Dirección Médica, Instituto Nacional de Pediatría, Secretaría de Salud, Insurgentes Sur 3700-C, Colonia Insurgentes-Cuicuilco, Alcaldía Coyoacán, 04530 Ciudad de Mexico, Mexico
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Author to whom correspondence should be addressed.
Genes 2019, 10(11), 856; https://doi.org/10.3390/genes10110856
Received: 19 September 2019 / Revised: 23 October 2019 / Accepted: 24 October 2019 / Published: 29 October 2019
The complete mutational spectrum of dystrophinopathies and limb-girdle muscular dystrophy (LGMD) remains unknown in Mexican population. Seventy-two unrelated Mexican male patients (73% of pediatric age) with clinical suspicion of muscular dystrophy and no evidence of DMD gene deletion on multiplex polymerase chain reaction (mPCR) analysis were analyzed by multiplex ligation-dependent probe amplification (MLPA). Those with a normal result were subjected to Sanger sequencing or to next-generation sequencing for DMD plus 10 selected LGMD-related genes. We achieved a diagnostic genotype in 80.5% (n = 58/72) of patients with predominance of dystrophinopathy-linked genotypes (68%, n = 49/72), followed by autosomal recessive LGMD-related genotypes (types 2A-R1, 2C-R5, 2E-R4, 2D-R3 and 2I-R9; 12.5%, n = 9/72). MLPA showed 4.2% of false-negatives for DMD deletions assessed by mPCR. Among the small DMD variants, 96.5% (n = 28/29) corresponded to null-alleles, most of which (72%) were inherited through a carrier mother. The FKRP p.[Leu276Ile]; [Asn463Asp] genotype is reported for the first time in Mexican patients as being associated with dilated cardiomyopathy. Absence of dysferlinopathies could be related to the small sample size and/or the predominantly pediatric age of patients. The employed strategy seems to be an affordable diagnosis approach for Mexican muscular dystrophy male patients and their families. View Full-Text
Keywords: Duchenne/Becker muscular dystrophies; dilated cardiomyopathy; limb-girdle muscular dystrophies; neuromuscular disorders; Mexican population; next-generation sequencing Duchenne/Becker muscular dystrophies; dilated cardiomyopathy; limb-girdle muscular dystrophies; neuromuscular disorders; Mexican population; next-generation sequencing
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Alcántara-Ortigoza, M.A.; Reyna-Fabián, M.E.; González-del Angel, A.; Estandia-Ortega, B.; Bermúdez-López, C.; Cruz-Miranda, G.M.; Ruíz-García, M. Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing. Genes 2019, 10, 856.

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