Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.
Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.
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DOI：
10.1186/1755-8166-5-25
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发表时间：
2012-05-02
影响因子：
1.3
通讯作者：
Carreira IM
中科院分区：
文献类型：
--
作者：
Ferreira SI;Matoso E;Venâncio M;Saraiva J;Melo JB;Carreira IM
标准的细胞遗传学分析显示，迄今为止，超过30个报告的病例提出涉及区域2 q31-q32间质缺失，但与不明确的断点。在2q31.2q32.3缺失作为一种临床可识别的疾病的假设之后，更多的患者被报道提出了一个关键区域，并指出了候选基因。我们报告两名女性患者从头2号染色体细胞遗传学可见的缺失，其中一个额外的从头20p12.2p12.3染色体缺失。患者I在2q31.2q32.3中呈现16.8 Mb缺失，而患者II在2q32.1q32.3中呈现较小的7 Mb缺失，完全包含在患者I缺失区域内，并且在Alagille综合征区域中呈现第二个4 Mb缺失。患者I明显表现出与2q31.2q32.3缺失综合征相关的症状，如肌肉表型和行为问题，而患者II表型与20 p12缺失相容，因为她表现出心脏水平的问题，没有显著的畸形和明显正常的精神发育。而Alagille综合征是一个很好的特点的条件，主要是由单倍不足的JAG 1基因，与表现，可以从轻微的临床表现的主要症状在不同的领域，2q31.2q32.3缺失综合征仍在划定。与与每种失衡相关的个体表型相比，报告的患者II中两种失衡的发生预计会导致更严重的表型，但情况并非如此，因为没有2 q32缺失引起的表现。这与患者I缺失区域与先前报道的病例重叠以及患者II缺失在该共同区域之外的事实一起，加强了2q31.3q32.1中181至185 Mb之间的关键区域的存在，该区域负责临床表型。
Standard cytogenetic analysis has revealed to date more than 30 reported cases presenting interstitial deletions involving region 2q31-q32, but with poorly defined breakpoints. After the postulation of 2q31.2q32.3 deletion as a clinically recognizable disorder, more patients were reported with a critical region proposed and candidate genes pointed out. We report two female patients with de novo chromosome 2 cytogenetically visible deletions, one of them with an additional de novo deletion in chromosome 20p12.2p12.3. Patient I presents a 16.8 Mb deletion in 2q31.2q32.3 while patient II presents a smaller deletion of 7 Mb in 2q32.1q32.3, entirely contained within patient I deleted region, and a second 4 Mb deletion in Alagille syndrome region. Patient I clearly manifests symptoms associated with the 2q31.2q32.3 deletion syndrome, like the muscular phenotype and behavioral problems, while patient II phenotype is compatible with the 20p12 deletion since she manifests problems at the cardiac level, without significant dysmorphisms and an apparently normal psychomotor development. Whereas Alagille syndrome is a well characterized condition mainly caused by haploinsufficiency of JAG1 gene, with manifestations that can range from slight clinical findings to major symptoms in different domains, the 2q31.2q32.3 deletion syndrome is still being delineated. The occurrence of both imbalances in reported patient II would be expected to cause a more severe phenotype compared to the individual phenotype associated with each imbalance, which is not the case, since there are no manifestations due to the 2q32 deletion. This, together with the fact that patient I deleted region overlaps previously reported cases and patient II deletion is outside this common region, reinforces the existence of a critical region in 2q31.3q32.1, between 181 to 185 Mb, responsible for the clinical phenotype.
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影响因子：
1.3
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通讯作者：
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