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Mov Disord ; 33(11): 1814-1819, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30398675

RESUMEN

BACKGROUND: The genetic bases of PD in sub-Saharan African (SSA) populations remain poorly characterized, and analysis of SSA families with PD might lead to the discovery of novel disease-related genes. OBJECTIVES: To investigate the clinical features and identify the disease-causing gene in a black South African family with 3 members affected by juvenile-onset parkinsonism and intellectual disability. METHODS: Clinical evaluation, neuroimaging studies, whole-exome sequencing, homozygosity mapping, two-point linkage analysis, and Sanger sequencing of candidate variants. RESULT: A homozygous 28-nucleotide frameshift deletion in the PTRHD1 coding region was identified in the 3 affected family members and linked to the disease with genome-wide significant evidence. PTRHD1 was recently nominated as the disease-causing gene in two Iranian families, each containing 2 siblings with similar phenotypes and homozygous missense mutations. CONCLUSION: Together with the previous reports, we provide conclusive evidence that loss-of-function mutations in PTRHD1 cause autosomal-recessive juvenile parkinsonism and intellectual disability. © 2018 International Parkinson and Movement Disorder Society.


Asunto(s)
Salud de la Familia , Discapacidad Intelectual/genética , Proteínas de la Membrana/genética , Proteínas Mitocondriales/genética , Mutación/genética , Trastornos Parkinsonianos/genética , Adulto , África del Sur del Sahara , Análisis Mutacional de ADN , Femenino , Humanos , Discapacidad Intelectual/complicaciones , Masculino , Trastornos Parkinsonianos/complicaciones
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