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首页> 外文期刊>American journal of medical genetics, Part A >A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
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A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.

机译：纯合平衡的相互易位提示LINC00237作为MOMO（宏观，肥胖，大头畸形和眼部异常）综合征的候选基因。

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Macrosomia, obesity, macrocephaly, and ocular abnormalities syndrome (MOMO syndrome) has been reported in only four patients to date. In these sporadic cases, no chromosomal or molecular abnormality has been identified thus far. Here, we report on the clinical, cytogenetic, and molecular findings in a child of healthy consanguineous parents suffering from MOMO syndrome. Conventional karyotyping revealed an inherited homozygous balanced reciprocal translocation (16;20)(q21;p11.2). Uniparental disomy testing showed bi-parental inheritance for both derivative chromosomes 16 and 20. The patient's oligonucleotide array-comparative genomic hybridization profile revealed no abnormality. From the homozygous balanced reciprocal translocation (16;20)(q21;p11.2), a positional cloning strategy, designed to narrow 16q21 and 20p11.2 breakpoints, revealed the disruption of a novel gene located at 20p11.23. This gene is now named LINC00237, according to the HUGO (Human Genome Organization) nomenclature. The gene apparently leads to the production of a non-coding RNA. We established that LINC00237 was expressed in lymphocytes of control individuals while normal transcripts were absent in lymphocytes of our MOMO patient. LINC00237 was not ubiquitously expressed in control tissues, but it was notably highly expressed in the brain. Our results suggested autosomal recessive inheritance of MOMO syndrome. LINC00237 could play a role in the pathogenesis of this syndrome and could provide new insights into hyperphagia-related obesity and intellectual disability.
机译：迄今为止，仅四例患者报道了巨鼻，肥胖，大头畸形和眼部异常综合征（MOMO综合征）。在这些零星的情况下，迄今尚未发现染色体或分子异常。在这里，我们报告了患有MOMO综合征的健康近亲父母的孩子的临床，细胞遗传学和分子发现。传统的核型分析揭示了遗传纯合平衡的相互易位（16; 20）（q21; p11.2）。单亲二体性测试显示衍生染色体16和20均具有双亲遗传。患者的寡核苷酸阵列比较基因组杂交谱未显示异常。从纯合平衡的相互易位（16; 20）（q21; p11.2），旨在缩小16q21和20p11.2断裂点的位置克隆策略揭示了位于20p11.23的新基因的破坏。根据HUGO（人类基因组组织）命名法，该基因现在命名为LINC00237。该基因显然导致产生非编码RNA。我们确定，LINC00237在对照组的淋巴细胞中表达，而我们MOMO患者的淋巴细胞中却没有正常的转录本。 LINC00237没有在对照组织中普遍表达，但在大脑中却特别高表达。我们的研究结果提示MOMO综合征的常染色体隐性遗传。 LINC00237可能在该综合征的发病机制中发挥作用，并可能为与食欲亢进相关的肥胖症和智力障碍提供新的见解。

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