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Comment
. 2006 Aug;79(2):409-14; author reply 414.
doi: 10.1086/506390.

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

Sara Benito-Sanz, Darya Gorbenko del Blanco, Celine Huber, N Simon Thomas, Miriam Aza-Carmona, David Bunyan, Vivienne Maloney, Jesús Argente, Valérie Cormier-Daire, Angel Campos-Barros, Karen E Heath
Comment

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

Sara Benito-Sanz et al. Am J Hum Genet. 2006 Aug.
No abstract available

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Figures

Figure 1.
Figure 1.
Characterization of PAR1 deletions in 47 patients with LWD and 1 patient with LMD, through use of a panel of microsatellites and SNPs (not to scale). Blackened areas indicate the presence of two copies of the marker or SNP, unblackened areas indicate the presence of a deletion, and shaded areas indicate the noninformative areas where the breakpoints are located. Distances are according to Ensembl Genome Browser coordinates; markers DXYS10136–DXYS234 are stated in kilobases, whereas markers DXYS10097–DXS1068 are stated in megabases. Deletion sizes are in kilobases unless otherwise stated. Proband 10 (indicated by an asterisk [*]), the subject with LMD, has been reported elsewhere; the proband inherited a familial deletion from her mother (10M), and a de novo deletion of the paternal allele (10P) was also included in the cohort. AFM248th5 is an STS marker.
Figure 2.
Figure 2.
Detailed schematic representation of the 3′ deletion limits of probands 10P and 43–48, which extend beyond the PAR1 into X-specific regions. These samples correspond to one male (proband 43), five sporadic females (44, 45, 10P, 47, and 48), and proband 46, a familial case from a family in which only affected females were observed. Blackened areas indicate the presence of two copies of the marker or SNP, unblackened areas indicate the presence of a deletion, and shaded areas indicate the noninformative areas where the breakpoints are located. Localization of the microsatellite markers and the genes located within the deletions are indicated by vertical lines above and below the line, respectively.
Figure 3.
Figure 3.
Fine mapping of 16 PAR1 deletions in patients with LWD and LMD with use of seven new synthetic Xp telomeric MLPA probes, indicated in bold. Distances are not to scale and are according to Ensembl Genome Browser coordinates (in kb). Blackened areas indicate the presence of two copies of the MLPA probe, marker, or SNP; unblackened areas indicate the presence of a deletion; and shaded areas indicate the noninformative areas where the breakpoints are located. “10P*” indicates the de novo deletion of the paternal allele.
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References

Web Resources

    1. dbSNP, http://www.ncbi.nlm.nih.gov/SNP/ (for SNP identification numbers [listed in ], including the new accession numbers ss49845885, ss49845886, ss49845887, ss49845888, ss49845889, ss49845890, ss49845891, ss49845892, ss49845893, ss49845894, ss49845895, and ss49845896)
    1. Ensembl Genome Browser, http://www.ensembl.org/ (for sequence information of the human X and Y chromosomes)
    1. GDB Human Genome Database, http://www.gdb.org (for further details about the new microsatellites DXYS10136, DXYS10137, DXYS10138, and DXYS10139)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for SHOX, LWD, and LMD)
    1. Tandem Repeat Finder, http://tandem.bu.edu/ (for identifying microsatellites in sequence data)

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