SHOX, 1.1-MB DEL

SHOX, 1.1-MB DEL

Variant type:
Deletion
Cytogenetic location:
Xp22.33
Other names:
  • 1.1-MB DEL
Links:
OMIM: 312865.0013

Clinical significance

SHOX, 1.1-MB DEL

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
(2/4)2 stars out of maximum of 4 stars
classified by multiple submitters
Number of submission(s):
2
Condition(s)
See supporting ClinVar records

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(Mar 15, 2013)
classified by single submitter
(literature only)
literature onlygermlinePubMed (1)
OMIM
(Dec 30, 2010)
SCV000030787
Pathogenic
(Mar 15, 2013)
classified by single submitter
(literature only)
literature onlygermlinePubMed (1)
OMIM
(Dec 30, 2010)
SCV000030788

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

Bertorelli et al. (2007) reported a fetus, conceived of consanguineous parents, with Langer mesomelic dysplasia (249700) resulting from a homozygous deletion extending from exon 6b of the SHOX gene downstream for 1.1 Mb and encompassing a cis-acting enhancer region. Both parents, who were heterozygous for the deletion, had features of classic Leri-Weill syndrome (127300). A previous fetus with features of Langer mesomelic dysplasia was also found to be homozygous for the mutation. Initial conventional gene testing for SHOX mutations in the parents did not reveal any mutations, and subsequent deletion analysis was carried out by multiplex ligation-dependent probe amplification.

Last Updated: Jul 23, 2014

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