Defects in the transcriptional control not involving the coding sequence of genes have emerged as a cause of several diseases, including Leri-Weill Syndrome (LWS) and its homozygous form, Langer Mesomelic Dysplasia (LMD), both caused by the inactivation of the SHOX gene. In a consanguineous LWS couple, MLPA and microsatellite analysis showed an heterozygous deletion in the 3’ SHOX regulatory region in both. By analysing their previously aborted fetus affected by LMD with a typical phenotype, the same deletion was found in a homozygous form. This is the first report of a pure homozygous deletion in a regulatory region causing disease in humans.

The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia / R., Bertorelli; L., Capone; F., Ambrosetti; L., Garavelli; L., Varriale; V., Mazza; I., Stanghellini; Percesepe, Antonio; Forabosco, Antonino. - In: CLINICAL GENETICS. - ISSN 0009-9163. - STAMPA. - 72(2007), pp. 490-491.

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