Authors: Ferreiro, Verónica; Giliberto, Florencia; Muñiz García, María Noelia; Francipane, Liliana; Marzese, Diego Matías; Mampel, Alejandra; Roqué, María; Frechtel, Gustavo Daniel; Szijan, Irena
Publication Date: 2009.
Language: English.
Abstract:
We report a Becker muscular dystrophy (BMD) family with one 5-year-old affected patient and a 69-year-old asymptomatic grandfather. Dystrophin gene multiplex polymerase chain reaction and multiplex ligation-dependant probe amplification analysis showed that both males carried an in-frame deletion of exons 45-55. Segregation analysis revealed two additional asymptomatic boys in this family. Our finding supports previous predictions that exons 45-55 are the optimal multiexon skipping target in antisense gene therapy to transform the severe Duchenne muscular dystrophy into the milder BMD, or even asymptomatic, phenotype.
Author affiliation: Ferreiro, Verónica. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Author affiliation: Giliberto, Florencia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina
Author affiliation: Muñiz García, María Noelia. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Author affiliation: Francipane, Liliana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Author affiliation: Marzese, Diego Matías. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad del Aconcagua. Facultad de Ciencias Médicas; Argentina
Author affiliation: Mampel, Alejandra. Universidad del Aconcagua. Facultad de Ciencias Médicas; Argentina
Author affiliation: Roqué, María. Universidad del Aconcagua. Facultad de Ciencias Médicas; Argentina
Author affiliation: Frechtel, Gustavo Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Author affiliation: Szijan, Irena. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina
Repository: CONICET Digital (CONICET). Consejo Nacional de Investigaciones Científicas y Técnicas
Authors: Fonseca, Renata F.; de Carvalho, Flávia M.; Poletta, Fernando Adrián; Montaner, David; Dopazo, Joaquin; Mereb, Juan C.; Moreira, Miguel A. M.; Seuanez, Hector N.; Vieira, Alexandre R.; Castilla, Eduardo Enrique; Orioli, Iêda M.
Publication Date: 2015.
Language: English.
Abstract:
The etiology of cleft lip with or without cleft palate (CL±P) is complex and heterogeneous, and multiple genetic and environmental factors are involved. Some candidate genes reported to be associated with oral clefts are located on the X chromosome. At least three genes causing X‐linked syndromes [midline 1 (MID1), oral‐facial‐digital syndrome 1 (OFD1), and dystrophin (DMD)] were previously found to be associated with isolated CL±P. We attempted to confirm the role of X‐linked genes in the etiology of isolated CL±P in a South American population through a family‐based genome‐wide scan. We studied 27 affected children and their mothers, from 26 families, in a Patagonian population with a high prevalence of CL±P. We conducted an exploratory analysis of the X chromosome to identify candidate regions associated with CL±P. Four genomic segments were identified, two of which showed a statistically significant association with CL±P. One is an 11‐kb region of Xp21.1 containing the DMD gene, and the other is an intergenic region (8.7 kb; Xp11.4). Our results are consistent with recent data on the involvement of the DMD gene in the etiology of CL±P. The MID1 and OFD1 genes were not included in the four potential CL±P‐associated X‐chromosome genomic segments.
Author affiliation: Fonseca, Renata F.. Universidade Federal do Rio de Janeiro; Brasil. National Institute of Population Medical Genetics; Brasil
Author affiliation: de Carvalho, Flávia M.. Universidade Federal do Rio de Janeiro; Brasil. National Institute of Population Medical Genetics; Brasil. Instituto Oswaldo Cruz; Brasil
Author affiliation: Poletta, Fernando Adrián. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina. National Institute of Population Medical Genetics; Brasil. Instituto Oswaldo Cruz; Brasil
Author affiliation: Montaner, David. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Centro de Investigaciones Príncipe Felipe; España
Author affiliation: Dopazo, Joaquin. Centro de Investigación Biomédica en Red de Enfermedades Raras; España. Centro de Investigaciones Príncipe Felipe; España
Author affiliation: Mereb, Juan C.. Provincia de Río Negro. Ministerio de Salud. Hospital De Área El Bolsón; Argentina
Author affiliation: Moreira, Miguel A. M.. National Cancer Institute; Brasil
Author affiliation: Seuanez, Hector N.. National Cancer Institute; Brasil. Universidade Federal do Rio de Janeiro; Brasil
Author affiliation: Vieira, Alexandre R.. University of Pittsburgh; Estados Unidos
Author affiliation: Castilla, Eduardo Enrique. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina. National Institute of Population Medical Genetics; Brasil. Instituto Oswaldo Cruz; Brasil
Author affiliation: Orioli, Iêda M.. Universidade Federal do Rio de Janeiro; Brasil. National Institute of Population Medical Genetics; Brasil
Repository: CONICET Digital (CONICET). Consejo Nacional de Investigaciones Científicas y Técnicas