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Article

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri-Weill Dyschondrosteosis.

American journal of medical genetics. Part A - 1 Mar 2026

Kopytko Valeriia, Hirschfeldova Katerina, Capkova Pavlina, Solc Roman

Abstract excerpt

SHOX gene haploinsufficiency is associated with Léri-Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent. The unanswered question is what the role of changes in SHOX gene methylation is and if they...

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Identifiers

PMID: 41078317
DOI: 10.1002/ajmg.a.64284

Genes

SHOX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri-Weill Dyschondrosteosis.PMID 41078317Read ↗

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.Semantic proximity Read ↗

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SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype CohortsSemantic proximity Read ↗

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.Semantic proximity Read ↗

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.Semantic proximity Read ↗

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.Semantic proximity Read ↗

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Semantic proximity Read ↗

PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.Semantic proximity Read ↗

Clinical impact of variants in non-coding regions of SHOX - Current knowledge.Semantic proximity Read ↗

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.Semantic proximity Read ↗

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect.Semantic proximity Read ↗

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