Giordano M, Gertosio C, Pagani S, Meazza C, Fusco I, Bozzola E, Bozzola M
Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Via Solaroli 17, 28100, Novara, Italy.
Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
BMC Med Genet. 2015 Sep 1;16:74. doi: 10.1186/s12881-015-0220-z.
Deletions of the long arm of chromosome X in males are a rare cause of X-linked intellectual disability. Here we describe a patient with an interstitial deletion of the Xq21.1 chromosome.
In a 15 year boy, showing intellectual disability, short stature, hearing loss and dysmorphic facial features, a deletion at Xq21.1 was identified by array-CGH. This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development).
Correlation between the clinical findings and the function of gene mapping within the deleted region confirms the causative role of this microrearrangement in our patient and provides new insight into a gene possibly involved in short stature.
男性X染色体长臂缺失是X连锁智力障碍的罕见病因。在此，我们描述一名患有Xq21.1染色体间质性缺失的患者。
一名15岁男孩，有智力障碍、身材矮小、听力丧失和面部畸形特征，通过阵列比较基因组杂交（array-CGH）鉴定出Xq21.1处存在缺失。这种母系遗传的5.8 Mb重排包含14个基因，包括BRWD3（与X连锁智力障碍有关）、TBX22（一个其改变与腭裂存在相关的基因）、POU3F4（在X连锁耳聋中发生突变）和ITM2A（一个参与软骨发育的基因）。
临床发现与缺失区域内基因图谱功能之间的相关性证实了这种微重排在我们患者中的致病作用，并为一个可能与身材矮小有关的基因提供了新的见解。
