Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification

Johanna M van Hagen, Hubertus J F M M Eussen, Ron van Schooten, Josef N van Der Geest, Gerardina C Lagers-van Haselen, Cokkie H Wouters, Chris I De Zeeuw, Johan J P Gille

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Most people with Williams syndrome (WS) have a heterozygous 1.55 Mb deletion on chromosome 7q11.23. For diagnostic purposes, fluorescence in situ hybridisation (FISH) with commercial FISH probes is commonly used to detect this deletion. We investigated whether multiplex ligation-dependent probe amplification (MLPA) is a reliable alternative for FISH. The MLPA kit (SALSA P029) contains probes for eight genes in the WS critical region: FKBP6, FZD9, TBL2, STX1A, ELN, LIMK1, RFC2, and CYLN2. The experimental FISH assay that was used consists of four probes covering the WS critical region. A total number of 63 patients was tested; in 53 patients, a deletion was detected both with FISH and MLPA(P029), in 10 patients both techniques failed to demonstrate a deletion. In only one patient, a deletion was detected which was not previously detected by two commercial FISH probes. This patient appeared to carry a small, atypical deletion. We conclude that MLPA is a reliable technique to detect WS. Compared with FISH, MLPA is less time consuming and has the possibility to detect also smaller, atypical deletions and duplications in the WS critical region.

Original languageEnglish
Pages (from-to)321-7
Number of pages7
JournalGenetic Testing
Volume11
Issue number3
DOIs
Publication statusPublished - 2007

Cite this

van Hagen, Johanna M ; Eussen, Hubertus J F M M ; van Schooten, Ron ; van Der Geest, Josef N ; Lagers-van Haselen, Gerardina C ; Wouters, Cokkie H ; De Zeeuw, Chris I ; Gille, Johan J P. / Comparing two diagnostic laboratory tests for Williams syndrome : fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification. In: Genetic Testing. 2007 ; Vol. 11, No. 3. pp. 321-7.
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abstract = "Most people with Williams syndrome (WS) have a heterozygous 1.55 Mb deletion on chromosome 7q11.23. For diagnostic purposes, fluorescence in situ hybridisation (FISH) with commercial FISH probes is commonly used to detect this deletion. We investigated whether multiplex ligation-dependent probe amplification (MLPA) is a reliable alternative for FISH. The MLPA kit (SALSA P029) contains probes for eight genes in the WS critical region: FKBP6, FZD9, TBL2, STX1A, ELN, LIMK1, RFC2, and CYLN2. The experimental FISH assay that was used consists of four probes covering the WS critical region. A total number of 63 patients was tested; in 53 patients, a deletion was detected both with FISH and MLPA(P029), in 10 patients both techniques failed to demonstrate a deletion. In only one patient, a deletion was detected which was not previously detected by two commercial FISH probes. This patient appeared to carry a small, atypical deletion. We conclude that MLPA is a reliable technique to detect WS. Compared with FISH, MLPA is less time consuming and has the possibility to detect also smaller, atypical deletions and duplications in the WS critical region.",
keywords = "Chromosomes, Human, Pair 7, Face/abnormalities, Humans, In Situ Hybridization, Fluorescence/methods, Nucleic Acid Amplification Techniques/methods, Phenotype, Williams Syndrome/diagnosis",
author = "{van Hagen}, {Johanna M} and Eussen, {Hubertus J F M M} and {van Schooten}, Ron and {van Der Geest}, {Josef N} and {Lagers-van Haselen}, {Gerardina C} and Wouters, {Cokkie H} and {De Zeeuw}, {Chris I} and Gille, {Johan J P}",
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Comparing two diagnostic laboratory tests for Williams syndrome : fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification. / van Hagen, Johanna M; Eussen, Hubertus J F M M; van Schooten, Ron; van Der Geest, Josef N; Lagers-van Haselen, Gerardina C; Wouters, Cokkie H; De Zeeuw, Chris I; Gille, Johan J P.

In: Genetic Testing, Vol. 11, No. 3, 2007, p. 321-7.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Comparing two diagnostic laboratory tests for Williams syndrome

T2 - fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification

AU - van Hagen, Johanna M

AU - Eussen, Hubertus J F M M

AU - van Schooten, Ron

AU - van Der Geest, Josef N

AU - Lagers-van Haselen, Gerardina C

AU - Wouters, Cokkie H

AU - De Zeeuw, Chris I

AU - Gille, Johan J P

PY - 2007

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N2 - Most people with Williams syndrome (WS) have a heterozygous 1.55 Mb deletion on chromosome 7q11.23. For diagnostic purposes, fluorescence in situ hybridisation (FISH) with commercial FISH probes is commonly used to detect this deletion. We investigated whether multiplex ligation-dependent probe amplification (MLPA) is a reliable alternative for FISH. The MLPA kit (SALSA P029) contains probes for eight genes in the WS critical region: FKBP6, FZD9, TBL2, STX1A, ELN, LIMK1, RFC2, and CYLN2. The experimental FISH assay that was used consists of four probes covering the WS critical region. A total number of 63 patients was tested; in 53 patients, a deletion was detected both with FISH and MLPA(P029), in 10 patients both techniques failed to demonstrate a deletion. In only one patient, a deletion was detected which was not previously detected by two commercial FISH probes. This patient appeared to carry a small, atypical deletion. We conclude that MLPA is a reliable technique to detect WS. Compared with FISH, MLPA is less time consuming and has the possibility to detect also smaller, atypical deletions and duplications in the WS critical region.

AB - Most people with Williams syndrome (WS) have a heterozygous 1.55 Mb deletion on chromosome 7q11.23. For diagnostic purposes, fluorescence in situ hybridisation (FISH) with commercial FISH probes is commonly used to detect this deletion. We investigated whether multiplex ligation-dependent probe amplification (MLPA) is a reliable alternative for FISH. The MLPA kit (SALSA P029) contains probes for eight genes in the WS critical region: FKBP6, FZD9, TBL2, STX1A, ELN, LIMK1, RFC2, and CYLN2. The experimental FISH assay that was used consists of four probes covering the WS critical region. A total number of 63 patients was tested; in 53 patients, a deletion was detected both with FISH and MLPA(P029), in 10 patients both techniques failed to demonstrate a deletion. In only one patient, a deletion was detected which was not previously detected by two commercial FISH probes. This patient appeared to carry a small, atypical deletion. We conclude that MLPA is a reliable technique to detect WS. Compared with FISH, MLPA is less time consuming and has the possibility to detect also smaller, atypical deletions and duplications in the WS critical region.

KW - Chromosomes, Human, Pair 7

KW - Face/abnormalities

KW - Humans

KW - In Situ Hybridization, Fluorescence/methods

KW - Nucleic Acid Amplification Techniques/methods

KW - Phenotype

KW - Williams Syndrome/diagnosis

U2 - 10.1089/gte.2007.0007

DO - 10.1089/gte.2007.0007

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EP - 327

JO - Genetic Testing

JF - Genetic Testing

SN - 1090-6576

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ER -