在一个新的法国家庭中证实了泌尿面（奥乔亚）综合征的基因同质性。

Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.

作者信息

Chauve X, Missirian C, Malzac P, Girardot L, Guys J M, Louis C, Philip N, Voelckel M A

机构信息

Department of Medical Genetics, Hôpital d'Enfants de la Timone, Marseille, France.

出版信息

Am J Med Genet. 2000 Nov 6;95(1):10-2. doi: 10.1002/1096-8628(20001106)95:1<10::aid-ajmg3>3.0.co;2-z.

DOI:10.1002/1096-8628(20001106)95:1<10::aid-ajmg3>3.0.co;2-z

PMID:11074487

Abstract

The urofacial syndrome (UFS) or Ochoa syndrome has been reported as a rare autosomal recessive disorder comprising a uropathy and facial abnormalities. The gene was mapped on chromosome region 10q23-q24. We report the first European cases of UFS. Haplotype analyses in our French family were compared with those previously described in patients from Columbia and America (literature data). The results are compatible with the same localization of the critical region and favor the hypothesis of genetic homogeneity.

摘要

泌尿面综合征（UFS）或奥乔亚综合征已被报道为一种罕见的常染色体隐性疾病，包括一种泌尿系统疾病和面部异常。该基因定位于染色体区域10q23 - q24。我们报告了首例欧洲的泌尿面综合征病例。我们对法国家庭进行的单倍型分析与之前在哥伦比亚和美国患者中描述的分析结果（文献数据）进行了比较。结果与关键区域的相同定位相符，并支持基因同质性的假设。