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1.
Mov Disord ; 33(11): 1814-1819, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30398675

RESUMO

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.


Assuntos
Saúde da Família , Deficiência Intelectual/genética , Proteínas de Membrana/genética , Proteínas Mitocondriais/genética , Mutação/genética , Transtornos Parkinsonianos/genética , Adulto , África Subsaariana , Análise Mutacional de DNA , Feminino , Humanos , Deficiência Intelectual/complicações , Masculino , Transtornos Parkinsonianos/complicações
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