医学
身材矮小
遗传学
表型
特纳综合征
三体
突变
基因
张力减退
X染色体
单倍率不足
作者
Lorenzo Iughetti,Lucia Capone,Heba Elsedfy,Roberto Bertorelli,Barbara Predieri,Patrizia Bruzzi,Antonino Forabosco,Mohamed El Kholy
标识
DOI:10.1515/jpem.2010.23.1-2.159
摘要
The assessment that heterozygous SHOX mutations leading to SHOX haploinsufficiency play a role in patients with idiopathic short stature (ISS) is already documented in the literature as well as the suggestion that additional copies of SHOX are strongly implicated in a condition of tall stature. However, we report the first case of short stature in a male associated with the presence of three copies of the SHOX gene. Through chromosomal analysis, using Multiplex Ligation-dependent Probe Amplification method of SHOX salsa P018B kit and microsatellite analysis, we identify a new interstitial isolated duplication of the SHOX gene and its enhancer caused by a larger duplication of the PAR1 region in a boy with ISS. Consequently, we propose the hypothesis that this chromosome re-arrangement disrupts the regular interaction between the enhancer and promoter, resulting in a transcription block, thus producing a lack of gene activation, causing the clinical feature of short stature.
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