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Article

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant

7 Apr 2023

Abstract excerpt

SHOX deficiency is a common genetic cause of short stature of variable degree. SHOX haploinsufficiency causes Leri–Weill dyschondrosteosis (LWD) as well as nonspecific short stature. SHOX haploinsufficiency is known to result from heterozygous loss-of-function variants with pseudo-autosomal dominant inheritance, while biallelic SHOX loss-of-function variants cause the more severe skeletal dysplasia, Langer...

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PMID: 37107635
DOI: 10.3390/genes14040877

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site VariantPMID 37107635Read ↗

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.Semantic proximity Read ↗

Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.Semantic proximity Read ↗

SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.Semantic proximity Read ↗

SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.Semantic proximity Read ↗

Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.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 ↗

Phenotypes Associated with SHOX DeficiencySemantic proximity Read ↗

Phenotypes Associated with SHOX Deficiency.Semantic proximity Read ↗

Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.Semantic proximity Read ↗

The SHOX region and its mutations.Semantic proximity Read ↗

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.Semantic proximity Read ↗

Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.Semantic proximity Read ↗

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