Magoulas Pilar L, Liu Pengfei, Gelowani Violet, Soler-Alfonso Claudia, Kivuva Emma C, Lupski James R, Potocki Lorraine
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Texas Children's Hospital, Houston, Texas.
Am J Med Genet A. 2014 Feb;164A(2):500-4. doi: 10.1002/ajmg.a.36287. Epub 2013 Dec 5.
Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder. The majority of individuals with PTLS harbor a de novo microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.6 Mb microdeletion in the Smith-Magenis syndrome critical region. Here, we report on the transmission of the PTLS duplication across two generations in two separate families. Individuals in these families presented initially with developmental delay, behavior problems, and intellectual disability. We provide a detailed review of the clinical and developmental phenotype of inherited PTLS in both families. This represents the second report (second and third families) of PTLS in a parent-child pair and exemplifies the under-diagnosis of this and likely other genetic conditions in adults with intellectual disability and/or psychiatric disorders.
波托基-卢普斯基综合征（PTLS，OMIM：610883）是一种微重复综合征，其特征为婴儿期肌张力减退、生长发育迟缓、心血管畸形、发育延迟、智力残疾以及行为异常，后者可能包括自闭症谱系障碍。大多数患有PTLS的个体携带17p11.2染色体的新发微重复，该区域与史密斯-马吉尼斯综合征关键区域常见的复发性3.6 Mb微缺失区域相互对应。在此，我们报告了PTLS重复在两个独立家庭中的两代人之间的传递情况。这些家庭中的个体最初表现为发育延迟、行为问题和智力残疾。我们对两个家庭中遗传性PTLS的临床和发育表型进行了详细综述。这是关于亲子对中PTLS的第二篇报道（第二个和第三个家庭），例证了这种疾病以及可能其他伴有智力残疾和/或精神障碍的成年人中的遗传疾病诊断不足的情况。
