Department of Dermatology, Columbia University, New York, NY 10032, USA.
Dermatology. 2011;223(4):316-20. doi: 10.1159/000333800. Epub 2012 Feb 3.
Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone abnormalities. Inherited hypertrichoses are very rare human disorders whose incidence has been estimated as low as 1 in 1 billion. The genetic basis of hypertrichosis is largely unknown, and currently no single gene has been directly implicated in its pathogenesis, although position effects have been reported.
We analyzed the DNA of a patient with Cantu syndrome on the Affymetrix Cytogenetics Whole-Genome 2.7M array for copy number variations (CNVs). We then performed genomic copy number quantification using qPCR, and finally we performed gene expression analysis in the hair follicle for the genes lying within and around the region of the duplication.
We identified a 375 kb duplication on chromosome 4q26-27. The duplication region encompassed three genes, which included MYOZ2, USP53 and FABP2. MYOZ2 and USP53 are known to be highly expressed in the cardiac muscle, and we found that USP53 is expressed in the hair follicle.
We propose that CNVs involving chromosome 4q26-27 may be associated with Cantu syndrome. CNVs spanning several genes may help define the molecular basis of syndromes which have unrelated clinical features.
坎都综合征是一种罕见的疾病，其临床特征为多毛症、心肌肥大和骨骼异常。遗传性多毛症是非常罕见的人类疾病，其发病率估计低至 10 亿分之一。多毛症的遗传基础在很大程度上是未知的，目前没有一个单一的基因直接与其发病机制有关，尽管已经报道了位置效应。
我们在 Affymetrix Cytogenetics Whole-Genome 2.7M 阵列上分析了一名坎都综合征患者的 DNA，以寻找拷贝数变异（CNVs）。然后，我们使用 qPCR 进行基因组拷贝数定量，最后我们对位于该重复区域内和周围的基因在毛囊中进行了基因表达分析。
我们在 4q26-27 染色体上发现了一个 375 kb 的重复。重复区域包含三个基因，包括 MYOZ2、USP53 和 FABP2。MYOZ2 和 USP53 已知在心肌中高度表达，我们发现 USP53 在毛囊中表达。
我们提出，涉及 4q26-27 染色体的 CNVs 可能与坎都综合征有关。跨越多个基因的 CNVs 可能有助于定义具有无关临床特征的综合征的分子基础。
