Murdock David R, Jiang Yunyun, Wangler Michael, Khayat Michael M, Sabo Aniko, Juusola Jane, McWalter Kirsty, Schatz Krista Sondergaard, Gunay-Aygun Meral, Gibbs Richard A
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). doi: 10.1101/mcs.a003608. Print 2019 Jun.
A 55-yr-old male with severe intellectual disability, behavioral problems, kyphoscoliosis, and dysmorphic features was referred for a genetic evaluation. Chromosomal microarray, RASopathy gene panel, mitochondrial sequencing, and fragile X testing were all negative. Subsequent whole-exome sequencing revealed a heterozygous, truncating variant in the gene, consistent with a diagnosis of Xia-Gibbs syndrome (XGS). Review of his clinical history showed many classic dysmorphic and clinical features of XGS, but no major health issues in adulthood other than intellectual disability. This individual is the oldest published XGS case to date, demonstrates the wide phenotypic spectrum of the disorder, and provides information on the condition's natural history. As more adults undergo genomic studies, we will continue to learn about the adult phenotypes of genetic conditions typically diagnosed in the pediatric setting.
一名55岁男性，有严重智力残疾、行为问题、脊柱后凸侧弯和畸形特征，被转诊进行基因评估。染色体微阵列、RAS病基因检测板、线粒体测序和脆性X检测均为阴性。随后的全外显子组测序显示该基因存在一个杂合性截短变异，符合夏-吉布斯综合征（XGS）的诊断。回顾其临床病史发现有许多XGS的典型畸形和临床特征，但成年后除智力残疾外无其他重大健康问题。此人是迄今为止已发表的年龄最大的XGS病例，展示了该疾病广泛的表型谱，并提供了有关该病自然史的信息。随着越来越多的成年人接受基因组研究，我们将继续了解通常在儿科诊断的遗传疾病的成人表型。
