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DNA Microarrays

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...

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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Mowat-Wilson syndrome detected by using high resolution microarray.

Jae Young Park¹, Eun Hae Cho, Eun Hee Lee

¹Department of Pediatrics, Inje University College of Medicine, Haeundae Paik Hospital, Busan, South Korea.

|September 14, 2013

Summary

This summary is machine-generated.

Mowat-Wilson syndrome (MWS), a genetic disorder, is reported for the first time in Korea. A patient with characteristic MWS features had a ZEB2 gene deletion identified via microarray, confirming the syndrome.

Keywords:

GTDC1 MWS Microarray Mowat–Wilson syndrome ZEB2 Zinc finger e-box protein 2 glycosyltransferase-like domain containing 1

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Area of Science:

Genetics
Medical Science

Background:

Mowat-Wilson syndrome (MWS) is a rare genetic disorder characterized by specific facial features, congenital anomalies like Hirschsprung disease, and intellectual disability.
Mutations or deletions in the ZEB2 gene are the primary cause of MWS.
Previous reports of MWS have been predominantly from Europe, Australia, and the United States, with no documented cases in Korea.

Observation:

A Korean patient presented with characteristic facial features suggestive of MWS, developmental delay, and spasticity.
High-resolution microarray analysis was performed to investigate the underlying genetic cause.
The analysis identified a 0.9 Mb deletion in the 2q22.3 chromosomal region.

Findings:

The identified deletion encompassed two genes: ZEB2 and GTDC1.
This finding directly links the patient's clinical presentation to a ZEB2 gene deletion, consistent with MWS.
This case represents the first documented instance of Mowat-Wilson syndrome in Korea.

Implications:

High-resolution microarray analysis is crucial for diagnosing patients with unexplained psychomotor retardation and/or facial dysmorphism.
Increased awareness of MWS clinical signs and the use of molecular tests like microarray can improve detection rates in the Korean population.
This report expands the geographic understanding of Mowat-Wilson syndrome and highlights the importance of genetic diagnostics in diverse populations.