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Article

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

European journal of human genetics : EJHG - 1 Jan 2021

Babu Deepak, Vannelli Silvia, Fanelli Antonella, Mellone Simona, Baffico Ave Maria, Corrado Lucia, Essa Wael Al, Grandone Anna, Bellone Simonetta, Monzani Alice, Vinci Giulia, De Sanctis Luisa, Stuppia Liborio, Prodam Flavia, Giordano Mara

Abstract excerpt

SHOX haploinsufficiency causes 70-90% of Léri-Weill dyschondrosteosis (LWD) and 2-10% of idiopathic short stature (ISS). Deletions removing the entire gene or enhancers and point mutations in the coding region represent a well-established cause of haploinsufficiency. During diagnostic genetic testing on ISS/LWD patients, in addition to classic SHOX defects, five 5'UTR variants (c.-58G > T, c.-55C > T, c.-51G > A,...

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Identifiers

PMID: 32647378
DOI: 10.1038/s41431-020-0676-y
PMCID: PMC7852508

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