University of Birmingham, Institution of Cancer and Genomic Sciences, Birmingham, UK.
West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women and Children's NHS Foundation Trust, Birmingham, UK.
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508. doi: 10.1002/ajmg.c.31738. Epub 2019 Sep 3.
Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is not yet well described. Given that it is now 17 years since disruption of NSD1 was shown to cause Sotos syndrome, many of the children first reported are now adults. It is therefore timely to investigate the phenotype of 44 adults with Sotos syndrome and NSD1 pathogenic variants. We have shown that adults with Sotos syndrome display a wide spectrum of intellectual ability with functioning ranging from fully independent to fully dependent. Reproductive rates are low. In our cohort, median height in adult women is +1.9 SD and men +0.5 SD. There is a distinctive facial appearance in adults with a tall, square, prominent chin. Reassuringly, adults with Sotos syndrome are generally healthy with few new medical issues; however, lymphedema, poor dentition, hearing loss, contractures and tremor have developed in a small number of individuals.
Sotos 综合征是一种由 NSD1 致病变异引起的过度生长-智力障碍（OGID）综合征，其特征为独特的面部特征、智力障碍、身材高大和/或大头畸形。其他相关的临床特征包括脊柱侧凸、癫痫发作、肾脏异常和心脏异常。然而，许多已发表的 Sotos 综合征临床描述都是基于对儿童的研究；Sotos 综合征成人的表型尚未得到很好的描述。鉴于 NSD1 功能缺失导致 Sotos 综合征的发现已经过去了 17 年，许多最初报道的儿童现在已经成年。因此，现在及时研究 44 名患有 Sotos 综合征和 NSD1 致病性变异的成年人的表型是非常重要的。我们已经表明，患有 Sotos 综合征的成年人表现出广泛的智力能力，其功能从完全独立到完全依赖不等。生殖率较低。在我们的队列中，成年女性的平均身高为+1.9 SD，男性为+0.5 SD。患有 Sotos 综合征的成年人具有独特的面部特征，表现为高而方、突出的下巴。令人欣慰的是，患有 Sotos 综合征的成年人通常身体健康，很少有新的健康问题；然而，少数人出现了淋巴水肿、牙齿状况不佳、听力损失、挛缩和震颤。
