MLPA Method does not Always Confirm the Results of aCGH: A Study of KANSL1 Gene Deletion Patients MLPA Method does not Always Confirm the Results of aCGH

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Zerrin Yilmaz Celik
Selin Akad Dinçer
İlknur Erol
Feride İffet Şahin

Abstract

Background: Microdeletion and microduplications are detected on chromosomes as a pathological subgroup of copy number variants of DNA. It has become easier to identify such chromosomal syndromes after use of array-based comparative genomic hybridization technology. One of them is the 17q21.31 microdeletion and microduplication syndrome. A 500-650 kb sized copy loss on 17q21.31 results in a phenotype which was described as Koolen-de Vries Syndrome including mental retardation, epilepsia, hypotonia and characteristic facial features. Today, we know that haplo-insufficiency of KANSL1 gene located in this region is responsible for these findings.


A total of 30 patients with KANSL1 deletion detected during aCGH analyses were enrolled in the current study. All patients were analyzed by Multiplex Ligation-Dependent Probe Amplication (MLPA) method in order to confirm the results.


Results: Three of the 30 patients had KANSL1 gene deletion detected by both methods and duplication was found in one patient.


Conclusion: As a result of the study, we concluded that although new generation molecular methods enable us to obtain big and valuable data, each method has its own limitations and confirming the reults with another method increases test reliability. Using together of these methods are useful for the geneticists during diagnosis, clinical assessment and genetic counseling of patients.

Article Details

Section
Original Research
Author Biographies

Selin Akad Dinçer, Başkent University

Faculty of Medicine Department of Medical Genetics

İlknur Erol, Başkent University

Başkent University

 Faculty of Medicine Department of Pediatrics

Feride İffet Şahin, Başkent University

Baskent University Faculty of Medicine Department of Medical Genetics