Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

Nature·Sep 8

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Research has identified novel partial deletions and duplications of the SHOX gene, with one study suggesting that a specific region, intron 3, may be a hotspot for these genetic changes. These genetic alterations have been linked to various conditions, including Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia. The exact nature and impact of these genetic changes are being explored through various studies, including those using techniques such as MLPA assay.

Full coverage

Langer mesomelic dysplasia as a rare manifestation of SHOX deficiency: a narrative review

Frontiers·Jul 6

Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene

Nature·Sep 24

Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay

Nature·Nov 8

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

Nature·Jun 29

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate

Nature·May 18

View original report at Nature ↗