Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience.
Consanguinity
Intellectual disability
Microcephaly
Whole exome sequencing
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
Feb 2019
Feb 2019
Historique:
received:
12
09
2018
accepted:
02
11
2018
pubmed:
15
11
2018
medline:
2
7
2019
entrez:
15
11
2018
Statut:
ppublish
Résumé
Whole-exome sequencing (WES) is an ideal method for the diagnosis of autosomal recessive diseases. The aim of this study was to evaluate the diagnostic power of WES in patients with autosomal recessive inheritance and to determine the relationship between genotype and phenotype. Retrospective screenings of 24 patients analysed with WES were performed and clinical and genetic data were evaluated. Any pathogenic mutation that could explain the suspected disease in 4 patients was not identified. A homozygous pathogenic mutation was detected in 18 patients. 2 patients had heterozygous mutations. According to this study results, WES is a successful technique to be used at the stage of diagnosis in patients who are accompanied by various degrees of intellectual disability matching the inheritance of the autosomal recessive.
Identifiants
pubmed: 30426380
doi: 10.1007/s11033-018-4470-7
pii: 10.1007/s11033-018-4470-7
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
287-299Références
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