Xia Yu, Huang Shufang, Wu Yueheng, Yang Yongchao, Chen Shaoxian, Li Ping, Zhuang Jian
Department of Cardiovascular Surgery of Guangdong Provincial Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong, China.
Prenatal Diagnosis Center, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong, China.
Mol Genet Genomic Med. 2019 Feb;7(2):e00517. doi: 10.1002/mgg3.517. Epub 2018 Dec 18.
Williams-Beuren syndrome (WBS; OMIM #194,050) is a rare multisystem disorder of a variable phenotypic spectrum caused by a heterozygous microdeletion in the WBS chromosome region (WBSCR) in 7q11.23.
We screened 38 Chinese Han patients with suspected WBS using chromosomal microarray analysis (CMA).
Pathogenic CNVs were identified in 34 of the patients, including 29 cases with a typical 7q11.23 microdeletion, three cases with atypical copy number variations (CNVs) within the WBS chromosome region and two cases with CNVs associated with other known syndromes. All 29 WBS patients with a typical microdeletion exhibited distinctive facial dysmorphisms and developmental delay. We observed that the incidence of pulmonary abnormalities was slightly higher than that of aortic abnormalities. We also found long philtrum and prominent lips with a thick lip that may warrant suspicion of WBS in the Chinese Han patients.
CMA facilitates diagnosis in individuals with classic/nonclassic features of WBS and demonstrated that when Chinese Han patients present with a less classical phenotype, such as pulmonary abnormalities, this may raise suspicion for a WBS diagnosis and suggest a referral for a genetics evaluation for a differential diagnosis.
威廉姆斯-伯伦综合征（WBS；OMIM #194,050）是一种罕见的多系统疾病，具有可变的表型谱，由7q11.23区域的威廉姆斯-伯伦综合征染色体区域（WBSCR）杂合微缺失引起。
我们使用染色体微阵列分析（CMA）对38例疑似WBS的中国汉族患者进行了筛查。
在34例患者中鉴定出致病性拷贝数变异（CNV），包括29例典型的7q11.23微缺失、3例WBS染色体区域内的非典型拷贝数变异（CNV）以及2例与其他已知综合征相关的CNV。所有29例典型微缺失的WBS患者均表现出独特的面部畸形和发育迟缓。我们观察到肺部异常的发生率略高于主动脉异常。我们还发现，在中国汉族患者中，人中长且嘴唇突出增厚可能提示怀疑患有WBS。
CMA有助于诊断具有WBS经典/非经典特征的个体，并表明当中国汉族患者表现出不太典型的表型，如肺部异常时，这可能会引发对WBS诊断的怀疑，并建议转诊进行遗传学评估以进行鉴别诊断。
