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New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients / 中华医学杂志(英文版)
Chinese Medical Journal ; (24): 1707-1713, 2015.
Artículo en Inglés | WPRIM | ID: wpr-231705
ABSTRACT
<p><b>BACKGROUND</b>Facioscapulohumeral muscular dystrophy (FSHD), a common autosomal dominant muscular disorder, is caused by contraction of the D4Z4 repeats on 4q35. The complicated genotype-phenotype correlation among different ethnic population remains a controversial subject. We aimed to refine this correlation in order to provide new information for genetic counseling.</p><p><b>METHODS</b>Here, a cohort of 136 Chinese families including 178 affected individuals and 137 unaffected members were investigated. Genetic analyses were performed using the p13E-11, 4qA and 4qB probes after pulsed field gel electrophoresis separation and southern blotting. A 10-grade FSHD clinical severity scale was adopted for clinical assessment. The genotype-phenotype correlation was established by linear regression analyses.</p><p><b>RESULTS</b>We observed a roughly inversed correlation between the short EcoRI fragment size and age-corrected clinical severity score in 154 symptomatic patients (P < 0.05). Compared to male patients, a significant higher proportion of females in both asymptomatic carriers and severe patients showed larger variation in the size of short EcoRI fragment. A high incidence (19/42, 45.2%) of asymptomatic (or minimally affected) carriers was found in familial members.</p><p><b>CONCLUSIONS</b>Although the number of D4Z4 repeats is known as one of the critical influences on genotype-phenotype correlation, a majority of phenotypic spectrum was still incompatible with their heterozygous contraction of the D4Z4 repeat, especial in female cases. Our results suggest that there are multi-factors synergistically modulating the phenotypic expression.</p>
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Patología / Fenotipo / Estudios Retrospectivos / Distrofia Muscular Facioescapulohumeral / Pueblo Asiatico / Estudios de Asociación Genética / Genética Tipo de estudio: Estudio observacional / Estudio pronóstico Límite: Adolescente / Adulto / Niño / Child, preschool / Femenino / Humanos / Masculino Idioma: Inglés Revista: Chinese Medical Journal Año: 2015 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Patología / Fenotipo / Estudios Retrospectivos / Distrofia Muscular Facioescapulohumeral / Pueblo Asiatico / Estudios de Asociación Genética / Genética Tipo de estudio: Estudio observacional / Estudio pronóstico Límite: Adolescente / Adulto / Niño / Child, preschool / Femenino / Humanos / Masculino Idioma: Inglés Revista: Chinese Medical Journal Año: 2015 Tipo del documento: Artículo