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首页> 外文期刊>Molecular syndromology >Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity
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Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity

机译：伴有肥胖症个体之间1p21.3缺失和不平衡易位t（8; 12）的两个新病例

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Obesity is a highly heritable but genetically heterogeneous disorder. Various well-known microdeletion syndromes (e.g. 1p36, 2q37, 6q16, 9q34, 17p11.2) can cause this phenotype along with intellectual disability (ID) and other findings. Chromosomal microarrays have identified ‘new’ microdeletion/duplication syndromes often associated with obesity. We report on 2 unrelated patients with an overlapping region of deletion at 1p21.3p21.2, and a third patient with a de novo recurrent unbalanced translocation der(8)t(8;12)(p23.1;p13.31), detected by 180K array CGH in a prospective cohort of syndromic obesity patients. Deletion of 1p21.3 is a rare condition, and there have been only 11 cases of the same recurrent translocation between chromosomes 8 and 12 [t(8;12)] reported to date. The former has been associated with ID, autistic spectrum disorder (ASD) and mild dysmorphic features, and in 4 patients who were obese or had a tendency to obesity, a minimal overlapping region of 2 genes, DPYD and MIR137, was detected; t(8;12) has recently been recognized to cause a childhood obesity syndrome due to duplication of the GNB3 gene. Thus, our findings add to the existing literature on the clinical description of these new syndromes, providing additional support that these loci are associated with syndromic obesity. We suggest that heterozygous loss of MIR137 may contribute to obesity as well as ID and ASD.
机译：肥胖是一种高度可遗传但遗传上异质的疾病。各种众所周知的微缺失综合症（例如1p36、2q37、6q16、9q34、17p11.2）会导致这种表型以及智力障碍（ID）和其他发现。染色体微阵列已鉴定出通常与肥胖症相关的“新”微缺失/复制综合征。我们报告了2名无关患者，其缺失区域重叠在1p21.3p21.2，第三名患者是从头复发复发性不平衡易位der（8）t（8; 12）（p23.1; p13.31），在有症状的肥胖患者的前瞻性队列中通过180K阵列CGH检测到。删除1p21.3是一种罕见的情况，迄今为止，只有11例在8号和12号染色体[t（8; 12）]之间发生相同的反复易位。前者与ID，自闭症谱系障碍（ASD）和轻度畸形特征有关，在4名肥胖或有肥胖倾向的患者中，检测到2个基因的最小重叠区域DPYD和MIR137。最近发现，由于GNB3基因重复，t（8; 12）会导致儿童肥胖综合征。因此，我们的发现增加了有关这些新综合征的临床描述的现有文献，为这些基因位点与肥胖症相关提供了额外的支持。我们建议，MIR137的杂合丢失可能导致肥胖以及ID和ASD。

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