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Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots
In the July 2005 and March 2006 issues of the Journal, Schneider et al.1 and Zinn et al.,2 respectively, reported mapping studies of SHOX (MIM 312865) deletions in patients with Léri-Weill dyschondrosteosis (LWD [MIM 127300]). In their study, Schneider et al.1 reported that the majority (73%) of patients with LWD who had SHOX deletions shared a 3? deletion breakpoint hotspot located downstream of SHOX. Zinn et al.2 identified a different 3? breakpoint hotspot located several hundred kilobases farther downstream in 86% of Hispanic patients, whereas the recombination hotspot described by Schneider et al.1 was not observed.
We characterized the SHOX deletion limits in a cohort of 48 European patients with LWD (n=47) and Langer mesomelic dysplasia (LMD [MIM 249700]) (n=1). SHOX deletions were originally detected by multiplex ligation probe amplification (MLPA) (MRC Holland) or microsatellite analysis (DXYS10092, DXYS201, DYS290, DXYS10093, DXYS233, and DXYS234) and subsequently were finely mapped using a dense panel of microsatellites and SNPs.3 Four newly identified microsatellites (Tandem Repeat Finder), located 133, 54, 31, and 19 kb 5? of SHOX (table 1), and 59 SNPs, 12 of which were previously unreported (table 2), were analyzed.
genetic, recombination, genetic heterogeneity, osteochondrodysplasias, metabolism, human, transcription factors, male, sequence deletion, proteins, homeodomain proteins, letter, female, research, genetics, humans, chemistry, research support, protein
0002-9297
409-414
Benito-Sanz, S.
519e9f1c-ba03-4c43-a92a-0d5aca96d794
Gorbenko del Blanco, D.
3a734ec6-54d4-49f4-b29d-55ae52e3e215
Huber, C.
7dbee735-9f93-4abe-abae-481c72d4d1a1
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Za-Carmona, M.
38f14b5e-364a-4423-89a1-1f5390acb431
Bunyan, D.
53a89b0f-cfde-4f58-87f3-084c8e9c774e
Maloney, V.
07e33c11-8048-490b-b93f-ae53f878d002
Argente, J.
bef5ce54-d8e1-427f-98f3-b9c27a625fa0
Cormier-Daire, V.
c24e8d31-92b1-4cae-88d5-733a0ca11767
Campos-Barros, A.
40b78ecc-e3e9-4cda-bc40-1a987987f254
Heath, K.E.
18a3a022-b7d2-4c17-82ba-a7a9c7d4b952
Benito-Sanz, S.
519e9f1c-ba03-4c43-a92a-0d5aca96d794
Gorbenko del Blanco, D.
3a734ec6-54d4-49f4-b29d-55ae52e3e215
Huber, C.
7dbee735-9f93-4abe-abae-481c72d4d1a1
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Za-Carmona, M.
38f14b5e-364a-4423-89a1-1f5390acb431
Bunyan, D.
53a89b0f-cfde-4f58-87f3-084c8e9c774e
Maloney, V.
07e33c11-8048-490b-b93f-ae53f878d002
Argente, J.
bef5ce54-d8e1-427f-98f3-b9c27a625fa0
Cormier-Daire, V.
c24e8d31-92b1-4cae-88d5-733a0ca11767
Campos-Barros, A.
40b78ecc-e3e9-4cda-bc40-1a987987f254
Heath, K.E.
18a3a022-b7d2-4c17-82ba-a7a9c7d4b952

Benito-Sanz, S., Gorbenko del Blanco, D., Huber, C., Thomas, N.S., Za-Carmona, M., Bunyan, D., Maloney, V., Argente, J., Cormier-Daire, V., Campos-Barros, A. and Heath, K.E. (2006) Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. The American Journal of Human Genetics, 79 (2), 409-414. (doi:10.1086/506390).

Record type: Article

Abstract

In the July 2005 and March 2006 issues of the Journal, Schneider et al.1 and Zinn et al.,2 respectively, reported mapping studies of SHOX (MIM 312865) deletions in patients with Léri-Weill dyschondrosteosis (LWD [MIM 127300]). In their study, Schneider et al.1 reported that the majority (73%) of patients with LWD who had SHOX deletions shared a 3? deletion breakpoint hotspot located downstream of SHOX. Zinn et al.2 identified a different 3? breakpoint hotspot located several hundred kilobases farther downstream in 86% of Hispanic patients, whereas the recombination hotspot described by Schneider et al.1 was not observed.
We characterized the SHOX deletion limits in a cohort of 48 European patients with LWD (n=47) and Langer mesomelic dysplasia (LMD [MIM 249700]) (n=1). SHOX deletions were originally detected by multiplex ligation probe amplification (MLPA) (MRC Holland) or microsatellite analysis (DXYS10092, DXYS201, DYS290, DXYS10093, DXYS233, and DXYS234) and subsequently were finely mapped using a dense panel of microsatellites and SNPs.3 Four newly identified microsatellites (Tandem Repeat Finder), located 133, 54, 31, and 19 kb 5? of SHOX (table 1), and 59 SNPs, 12 of which were previously unreported (table 2), were analyzed.

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More information

Published date: 2006
Keywords: genetic, recombination, genetic heterogeneity, osteochondrodysplasias, metabolism, human, transcription factors, male, sequence deletion, proteins, homeodomain proteins, letter, female, research, genetics, humans, chemistry, research support, protein

Identifiers

Local EPrints ID: 59502
URI: https://eprints.soton.ac.uk/id/eprint/59502
ISSN: 0002-9297
PURE UUID: 2989fa95-6ea5-4c9a-bc8f-1ef5f0307133

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Date deposited: 03 Sep 2008
Last modified: 13 Mar 2019 20:30

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Contributors

Author: S. Benito-Sanz
Author: D. Gorbenko del Blanco
Author: C. Huber
Author: N.S. Thomas
Author: M. Za-Carmona
Author: D. Bunyan
Author: V. Maloney
Author: J. Argente
Author: V. Cormier-Daire
Author: A. Campos-Barros
Author: K.E. Heath

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