Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)
Subtelomeric rearrangements are responsible for 5% to 10% of cases of unexplained mental retardation. Despite their clinical relevance, methods to screen for these cytogenetically invisible abnormalities on a routine base are scarce. We screened patients with idiopathic mental retardation for subtel...
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Published in | Human mutation Vol. 23; no. 1; pp. 17 - 21 |
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Main Authors | , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Hoboken
Wiley Subscription Services, Inc., A Wiley Company
01.01.2004
Hindawi Limited |
Subjects | |
Online Access | Get full text |
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Summary: | Subtelomeric rearrangements are responsible for 5% to 10% of cases of unexplained mental retardation. Despite their clinical relevance, methods to screen for these cytogenetically invisible abnormalities on a routine base are scarce. We screened patients with idiopathic mental retardation for subtelomeric aberrations using multiplex ligation‐dependent probe amplification (MLPA). This recently developed technique is based on PCR amplification of ligated probes hybridized to chromosome ends. Currently, 41 telomeres can be screened in just two multiplex reactions. Four subtelomeric rearrangements (5.3%) were detected in a group of 75 patients with mild to severe mental retardation in combination with dysmorphic features and/or a familial history of mental retardation: two terminal 1p deletions, a terminal 1q deletion, and a terminal 3p deletion. Deletions could be verified by FISH and marker analysis. In one case the MLPA indicated a terminal 21q deletion due to a 3‐bp deletion at the site of the probe, giving a false‐positive rate of 1.3%. This study demonstrates that MLPA is a fast and reliable screening method, potentially suitable for use in routine diagnostics. Hum Mutat 23:17–21, 2004. © 2003 Wiley‐Liss, Inc. |
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Bibliography: | ArticleID:HUMU10300 Belgian National Fund for Scientific Research-Flanders (FWO) istex:DC3751AC0E398394A20B9A6F9AEF7DB18E2C8BD3 National Organization for Support of the Mentally Handicapped (NSVG)/Rotary Club Antwerp Communicated by Ulf Landegren Marguerite-Marie Delacroix Foundation Interuniversity Attraction Poles Programme (IUAP-V) ark:/67375/WNG-QL1X5GCC-R ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 1059-7794 1098-1004 |
DOI: | 10.1002/humu.10300 |