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Article

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.

American journal of medical genetics. Part A - 1 Feb 2014

Tsuchiya Takayoshi, Shibata Minoru, Numabe Hironao, Jinno Tomoko, Nakabayashi Kazuhiko, Nishimura Gen, Nagai Toshiro, Ogata Tsutomu, Fukami Maki

Abstract excerpt

Haploinsufficiency of SHOX on the short arm pseudoautosomal region (PAR1) leads to Leri-Weill dyschondrosteosis (LWD), and nullizygosity of SHOX results in Langer mesomelic dysplasia (LMD). Molecular defects of LWD/LMD include various microdeletions in PAR1 that involve exons and/or the putative upstream or downstream enhancer regions of SHOX, as well as several intragenic mutations. Here, we report on a Japanese...

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Identifiers

PMID: 24311385
DOI: 10.1002/ajmg.a.36284

Genes

SHOX

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.PMID 24311385Read ↗

The SHOX region and its mutations.Semantic proximity Read ↗

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).Semantic proximity Read ↗

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

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

Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.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 ↗

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 ↗

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.Semantic proximity Read ↗

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site VariantSemantic proximity Read ↗

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

A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.Semantic proximity Read ↗

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