Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.
Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.
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DOI：
10.1186/s13039-015-0107-x
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发表时间：
2015
影响因子：
1.3
通讯作者：
Tosca L
中科院分区：
文献类型：
--
作者：
Armanet N;Metay C;Brisset S;Deschenes G;Pineau D;Petit FM;Di Rocco F;Goossens M;Tachdjian G;Labrune P;Tosca L
在这里，我们报告了两个Xp11.22缺失，包括SHROOM 4和CLCN 5基因的临床和分子特征。这些缺失出现在同一患者的同一X染色体上。患者是一名6岁男孩，表现为脑积水、严重精神错乱和生长迟缓、面部畸形和肾近端小管病变，伴有低分子量蛋白尿、高钙尿、高氨基酸尿、低磷血症和高尿酸血症。标准和高分辨率核型显示46，XY公式。阵列-CGH显示在Xp11.22区域中有两个连续的隐性缺失，分别测量148 Kb和2.6 Mb。这两个缺失是遗传自无症状的母亲。阵列CGH允许我们确定缺失区域中的候选基因。CLCN 5的破坏和部分缺失证实了该患者的Dent病诊断。此外，先前描述的参与SHROOM 4在神经元发育进行了讨论。
Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient. The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, facial dysmorphism and renal proximal tubulopathy associated with low-molecular-weight proteinuria, hypercalciuria, hyperaminoaciduria, hypophosphatemia and hyperuricemia. Standard and high resolution karyotypes showed a 46,XY formula. Array-CGH revealed two consecutive cryptic deletions in the region Xp11.22, measuring respectively 148 Kb and 2.6 Mb. The two deletions were inherited from the asymptomatic mother. Array-CGH allowed us to determine candidate genes in the deleted region. The disruption and partial loss of CLCN5 confirmed the diagnostic of Dent disease for this patient. Moreover, the previously described involvement of SHROOM4 in neuronal development is discussed.
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影响因子：
3.5
作者：
Qiao, Y.;Liu, X.;Lewis, M. E. S.
通讯作者：
Lewis, M. E. S.
影响因子：
3.5
作者：
POOK, MA;WRONG, O;THAKKER, RV
通讯作者：
THAKKER, RV
影响因子：
--
作者：
Wu, Fiona;Reed, Anita A. C.;Thakker, Rajesh V.
通讯作者：
Thakker, Rajesh V.
影响因子：
2
作者：
Stevenson, RE;Procopio-Allen, AM;Collins, JS
通讯作者：
Collins, JS
影响因子：
64.8
作者：
Scheel, O;Zdebik, AA;Jentsch, TJ
通讯作者：
Jentsch, TJ