Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene.
Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene.
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DOI：
10.1186/s13039-015-0123-x
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发表时间：
2015
影响因子：
1.3
通讯作者：
Carreira IM
中科院分区：
文献类型：
--
作者：
Melo JB;Estevinho A;Saraiva J;Ramos L;Carreira IM
通过阵列比较基因组杂交进行的宽基因组筛选使得新的19q13.11缺失综合征的识别成为可能。很少有报告这种缺失的病例，但临床上这种疾病似乎可以通过产前和产后生长迟缓、小头畸形、发育迟缓/智力残疾、言语障碍、尿道下裂（男性）以及后枕骨外胚层发育不良和皮肤发育不全的体征来识别。使用寡核苷酸阵列CGH，在一名23岁女性患者中检测到19q13.11q13.12的4.6 Mb缺失，该患者先前表现出与19q13.11缺失相关的临床特征。我们的工作加强了这样一种想法，即一个包含四个锌指基因的区域可能是该综合征的原因，并且轻微临床表现的差异取决于该综合征的最小重叠区域之外的基因。我们还回顾了文献中描述的所有病例，并讨论了UBA 2基因单倍不足与报告的大多数患者中存在的皮肤发育不全之间的相关性，以及其作为19q13.11缺失综合征临床标志的重要性，当与男性中更常见的特征如发育迟缓，小头畸形，言语障碍和尿道下裂相关时。
Wide genome screening through array comparative genomic hybridization made possible the recognition of the novel 19q13.11 deletion syndrome. There are very few cases reported with this deletion, but clinically this condition seems to be recognizable by pre and postnatal growth retardation, microcephaly, developmental delay/intellectual disabilities, speech disturbance, hypospadias (in males) and signs of ectodermal dysplasia and cutis aplasia over the posterior occiput. Using oligoarray CGH, a 4.6 Mb deletion in 19q13.11q13.12 was detected in a 23 year old female patient that presented clinical features previously associated with 19q13.11 deletion. Our work reinforces the idea that a region encompassing four zinc finger genes is likely to be responsible for the syndrome, and that the difference in minor clinical manifestation depends on the genes present outside the minimal overlapping region proposed for this syndrome. We also review all cases described in the literature and discuss the correlation between haploinsufficiency of UBA2 gene and cutis aplasia present in the majority of the patients reported, and its importance as a clinical hallmark of 19q13.11 deletion syndrome, when associated with more common features like developmental delay, microcephaly, speech disturbance and hypospadias in males.
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影响因子：
12.3
作者：
Urrutia R
通讯作者：
Urrutia R
影响因子：
9.8
作者：
Massa, Valeria;Fernandez-Vizarra, Erika;Zeviani, Massimo
通讯作者：
Zeviani, Massimo
影响因子：
9.8
作者：
Lugtenberg, D;Yntema, HG;van Bokhoven, H
通讯作者：
van Bokhoven, H
影响因子：
1.3
作者：
Ferreira SI;Matoso E;Venâncio M;Saraiva J;Melo JB;Carreira IM
通讯作者：
Carreira IM
DOI：
10.1038/ejhg.2012.19
发表时间：
2012-08
期刊：
European journal of human genetics : EJHG
影响因子：
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作者：
通讯作者：
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