巴基斯坦一家罗伯茨综合征的产前诊断及ESCO2移码突变的检测
Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.
作者信息
Schulz Solveig, Gerloff Claudia, Ledig Susanne, Langer Dorothea, Volleth Mariannne, Shirneshan Katayoon, Wieacker Peter
机构信息
Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Germany.
出版信息
Prenat Diagn. 2008 Jan;28(1):42-5. doi: 10.1002/pd.1904.
OBJECTIVES
We report two siblings with Roberts syndrome (RBS), and an attempt to delineate the underlying molecular mechanism leading to familial recurrence.
METHODS
Cytogenetic studies and direct sequencing of the ESCO2 gene were carried out in the second affected fetus and the parents. Fetal DNA was obtained from amniocytes after amniocentesis. Parental DNA was obtained from peripheral blood samples.
RESULTS
Cytogenetic analysis of amniocytes revealed a normal male karyotype in 20 analyzed metaphases and chromosomal aneuploidies in 10 metaphases. All metaphases displayed premature separation of centromeres and puffing of heterochromatic regions near the centromere. A homozygous mutation leading to a frameshift in ESCO2 was identified in the fetal DNA sample. Both parents are heterozygous carriers of the same mutation.
CONCLUSION
The present case demonstrates the prenatal diagnosis of RBS associated with a frameshift mutation in ESCO2.
目的
我们报告了两例患有罗伯茨综合征（RBS）的兄弟姐妹，并试图阐明导致家族性复发的潜在分子机制。
方法
对第二名受影响胎儿及其父母进行了细胞遗传学研究和ESCO2基因的直接测序。羊膜穿刺术后从羊水中获取胎儿DNA。从外周血样本中获取父母的DNA。
结果
对羊水细胞进行细胞遗传学分析，在20个分析的中期显示正常男性核型，在10个中期显示染色体非整倍体。所有中期均显示着丝粒过早分离以及着丝粒附近异染色质区域的膨胀。在胎儿DNA样本中鉴定出导致ESCO2移码的纯合突变。父母双方均为同一突变的杂合携带者。
结论
本病例证明了与ESCO2移码突变相关的RBS的产前诊断。
Zotero 插件