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Your search keyword '"G. Eleuch‐Fayache"' showing total 2 results
Start Over Author "G. Eleuch‐Fayache" Topic exome
2 results on '"G. Eleuch‐Fayache"'

1. Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.

Author

Hammer MB, Eleuch-Fayache G, Gibbs JR, Arepalli SK, Chong SB, Sassi C, Bouhlal Y, Hentati F, Amouri R, and Singleton AB

Subjects
Adolescent, Age of Onset, Amino Acid Sequence, Apolipoproteins B genetics, Base Sequence, Child, Child, Preschool, Female, Genotype, Humans, Infant, Male, Molecular Sequence Data, Pedigree, Polymorphism, Single Nucleotide, Young Adult, Exome genetics, Heat-Shock Proteins genetics, Proteins genetics, Spinocerebellar Ataxias diagnosis, Spinocerebellar Ataxias genetics
Abstract

Background and Purpose: Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied three families diagnosed with ARCA., Methods: To determine the gene lesions responsible for their disorders, we performed high-density single-nucleotide polymorphism genotyping and exome sequencing., Results: We identified a new mutation in the SACS gene and a known mutation in SPG11. Notably, we also identified a homozygous variant in APOB, a gene previously associated with ataxia., Conclusions: These findings demonstrate that exome sequencing is an efficient and direct diagnostic tool for identifying the causes of complex and genetically heterogeneous neurodegenerative diseases, early-stage disease or cases with limited clinical data., (Published 2012. This article is a U.S. Government work and is in the public domain in the USA. European Journal of Neurology © 2012 EFNS.)

Published
2013
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2. Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

Author

Yosr Bouhlal, Sampath Arepalli, Fayçal Hentati, Sean B. Chong, G. Eleuch‐Fayache, AB Singleton, R. Amouri, Celeste Sassi, Monia B. Hammer, and J. R. Gibbs

Subjects
Male, Ataxia, Adolescent, Genotype, Molecular Sequence Data, Polymorphism, Single Nucleotide, Article, Young Adult, medicine, Humans, Spinocerebellar Ataxias, Base sequence, Exome, Amino Acid Sequence, Age of Onset, Child, Exome sequencing, Heat-Shock Proteins, Apolipoproteins B, Genetics, Heterogeneous group, Base Sequence, business.industry, Infant, Proteins, Autosomal recessive cerebellar ataxia, medicine.disease, Pedigree, Neurology, Child, Preschool, Spinocerebellar ataxia, Female, Neurology (clinical), medicine.symptom, Age of onset, business
Abstract

Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied three families diagnosed with ARCA.To determine the gene lesions responsible for their disorders, we performed high-density single-nucleotide polymorphism genotyping and exome sequencing.We identified a new mutation in the SACS gene and a known mutation in SPG11. Notably, we also identified a homozygous variant in APOB, a gene previously associated with ataxia.These findings demonstrate that exome sequencing is an efficient and direct diagnostic tool for identifying the causes of complex and genetically heterogeneous neurodegenerative diseases, early-stage disease or cases with limited clinical data.

Published
2012

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