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Imagawa–Matsumoto syndrome: SUZ12-related overgrowth disorder
Clinical Genetics ( IF 2.9 ) Pub Date : 2023-01-16 , DOI: 10.1111/cge.14296 Eri Imagawa 1 , Rie Seyama 2, 3 , Hiromi Aoi 2, 3 , Yuri Uchiyama 2, 4 , Bruno Guimaraes Marcarini 5 , Isabel Furquim 5 , Rachel Sayuri Honjo 5 , Debora Romeo Bertola 5 , Chong Ae Kim 5 , Naomichi Matsumoto 2
Clinical Genetics ( IF 2.9 ) Pub Date : 2023-01-16 , DOI: 10.1111/cge.14296 Eri Imagawa 1 , Rie Seyama 2, 3 , Hiromi Aoi 2, 3 , Yuri Uchiyama 2, 4 , Bruno Guimaraes Marcarini 5 , Isabel Furquim 5 , Rachel Sayuri Honjo 5 , Debora Romeo Bertola 5 , Chong Ae Kim 5 , Naomichi Matsumoto 2
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The SUZ12 gene encodes a subunit of polycomb repressive complex 2 (PRC2) that is essential for development by silencing the expression of multiple genes. Germline heterozygous variants in SUZ12 have been found in Imagawa–Matsumoto syndrome (IMMAS) characterized by overgrowth and multiple dysmorphic features. Similarly, both EZH2 and EED also encode a subunit of PRC2 each and their pathogenic variants cause Weaver syndrome and Cohen–Gibson syndrome, respectively. Clinical manifestations of these syndromes significantly overlap, although their different prevalence rates have recently been noted: generalized overgrowth, intellectual disability, scoliosis, and excessive loose skin appear to be less prevalent in IMMAS than in the other two syndromes. We could not determine any apparent genotype–phenotype correlation in IMMAS. The phenotype of neurofibromatosis type 1 arising from NF1 deletion was also shown to be modified by the deletion of SUZ12, 560 kb away. This review deepens our understanding of the clinical and genetic characteristics of IMMAS together with other overgrowth syndromes related to PRC2. We also report on a novel IMMAS patient carrying a splicing variant (c.1023+1G>C) in SUZ12. This patient had a milder phenotype than other previously reported IMMAS cases, with no macrocephaly or overgrowth phenotypes, highlighting the clinical variation in IMMAS.
中文翻译：
Imagawa-Matsumoto 综合征：SUZ12 相关的过度生长障碍
SUZ12基因编码多梳抑制复合物 2 (PRC2) 的一个亚基，该亚基通过沉默多个基因的表达对发育至关重要。SUZ12的种系杂合变异已在以过度生长和多种畸形特征为特征的今川-松本综合征 (IMMAS) 中被发现。同样，EZH2和EED还分别编码 PRC2 的一个亚基，它们的致病变异分别导致韦弗综合征和科恩-吉布森综合征。这些综合征的临床表现明显重叠，尽管最近发现它们的患病率不同：全身过度生长、智力障碍、脊柱侧凸和皮肤过度松弛在 IMMAS 中似乎不如其他两种综合征普遍。我们无法确定 IMMAS 中任何明显的基因型-表型相关性。由NF1缺失引起的 1 型神经纤维瘤病的表型也显示通过SUZ12的缺失进行修饰, 560 kb 远。这篇综述加深了我们对 IMMAS 以及其他与 PRC2 相关的过度生长综合征的临床和遗传特征的理解。我们还报告了一名携带SUZ12剪接变体 (c.1023+1G>C) 的新型 IMMAS 患者。该患者的表型比之前报道的其他 IMMAS 病例更轻，没有巨头畸形或过度生长表型，突出了 IMMAS 的临床变异。
更新日期：2023-01-16
中文翻译：
Imagawa-Matsumoto 综合征：SUZ12 相关的过度生长障碍
SUZ12基因编码多梳抑制复合物 2 (PRC2) 的一个亚基，该亚基通过沉默多个基因的表达对发育至关重要。SUZ12的种系杂合变异已在以过度生长和多种畸形特征为特征的今川-松本综合征 (IMMAS) 中被发现。同样，EZH2和EED还分别编码 PRC2 的一个亚基，它们的致病变异分别导致韦弗综合征和科恩-吉布森综合征。这些综合征的临床表现明显重叠，尽管最近发现它们的患病率不同：全身过度生长、智力障碍、脊柱侧凸和皮肤过度松弛在 IMMAS 中似乎不如其他两种综合征普遍。我们无法确定 IMMAS 中任何明显的基因型-表型相关性。由NF1缺失引起的 1 型神经纤维瘤病的表型也显示通过SUZ12的缺失进行修饰, 560 kb 远。这篇综述加深了我们对 IMMAS 以及其他与 PRC2 相关的过度生长综合征的临床和遗传特征的理解。我们还报告了一名携带SUZ12剪接变体 (c.1023+1G>C) 的新型 IMMAS 患者。该患者的表型比之前报道的其他 IMMAS 病例更轻，没有巨头畸形或过度生长表型，突出了 IMMAS 的临床变异。
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