Fryssira Helena, Psoni Stavroula, Amenta Styliani, Tsoutsou Eirini, Sofocleous Christalena, Manolakos Emmanouil, Gavra Maria, Lüdecke Hermann-Joseph, Czeschik Johanna-Christina
Medical Genetics, School of Medicine, National and Kapodistrian University of Athens, Greece.
MITERA Maternity Hospital, Athens, Greece.
Mol Syndromol. 2017 Jun;8(4):206-210. doi: 10.1159/000471247. Epub 2017 May 10.
Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly, and occasionally, skeletal abnormalities. The syndrome has been attributed to mutated or genes. We present a 4-year-old girl with developmental delay, distinctive coarse facial features, and generalized hypertrichosis apparent since birth. The investigation revealed absent ovaries and a hypoplastic uterus which have not been previously described. Conventional karyotyping was normal. DNA sequencing analysis of the gene was performed, and a heterozygous point mutation c.3460C>T (p.Arg1154Trp) was revealed. This missense gain-of-function mutation was located in exon 27 of the gene and has been reported in patients with the full phenotype of Cantú syndrome. However, the absence of the ovaries could be an expansion of the phenotype and not attributed to mutations in other genes important for ovarian development. Unfortunately, it has not been proven so far if the gene is expressed in the ovarian tissue.
坎图综合征是一种非常罕见的常染色体显性疾病，其特征为全身性先天性多毛症、新生儿巨大症、面容粗糙、心脏肥大，偶尔还伴有骨骼异常。该综合征被认为是由 或 基因突变所致。我们报告了一名 4 岁女童，自出生以来就有发育迟缓、独特的粗糙面部特征和全身性多毛症。检查发现其卵巢缺如和子宫发育不全，此前未见相关描述。常规核型分析正常。对 基因进行了 DNA 测序分析，发现了一个杂合点突变 c.3460C>T（p.Arg1154Trp）。这种错义功能获得性突变位于 基因的第 27 外显子，在具有坎图综合征完整表型的患者中已有报道。然而，卵巢缺如可能是表型的扩展，并非归因于对卵巢发育重要的其他基因突变。遗憾的是，到目前为止尚未证实 基因是否在卵巢组织中表达。
