Abstract：
: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.
journal_name
Mol Biol Repjournal_title
Molecular biology reportsauthors
Elmas M,Yıldız H,Erdoğan M,Gogus B,Avcı K,Solak Mdoi
10.1007/s11033-018-4470-7subject
Has Abstractpub_date
2019-02-01 00:00:00pages
287-299issue
1eissn
0301-4851issn
1573-4978pii
10.1007/s11033-018-4470-7journal_volume
46pub_type
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