Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome
نویسندگان
چکیده
منابع مشابه
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.
The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome, also known as hereditary sacral agenesis (HSA). This gene specifies a 403-amino acid protein containing a homeodomain preceded by a very highly conserved 82-amino acid domain of unknown function; the remainder of the protein is not well conserved. Here we report an extensive mutation survey tha...
متن کاملA novel HLXB9 mutation in a Chinese family with Currarino syndrome.
Introduction Currarino syndrome (CS), first described in 1981,1 is a congenital malformation typically associated with sacral agenesis, anorectal malformations, and a presacral mass. Patients affected by CS display a phenotypic variability, whereby the spectrum of phenotypes ranges from a severe triad to asymptomatic features.2,3 A familial tendency with autosomal dominant inheritance was noted...
متن کاملPopulation differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.
BACKGROUND The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in HLXB9. METHODS We analyzed 5 CS families and 6 sporadic cases for HLXB9 mutations by direct sequencing. Potentially pathologic expansions of HLXB9 GCC repeats were analyzed in patients, 4 general populations [Chinese, J...
متن کاملCurrarino syndrome
Other names: Currarino triad; ASP (Anal atresia, sacral anomalies, presacral mass); Sacral defect with Anterior Meningocoele Note: Currarino syndrome is a multiple congenital anomalies syndrome characterized by partial agenesis of the sacrum in association with pelvic malformation. Anal atresia and the presence of a pre-sacral mass (teratoma and/or anterior meningocoele) make up the so called C...
متن کاملthe study of aaag repeat polymorphism in promoter of errg gene and its association with the risk of breast cancer in isfahan region
چکیده: سرطان پستان دومین عامل مرگ مرتبط با سرطان در خانم ها است. از آنجا که سرطان پستان یک تومور وابسته به هورمون است، می تواند توسط وضعیت هورمون های استروئیدی شامل استروژن و پروژسترون تنظیم شود. استروژن نقش مهمی در توسعه و پیشرفت سرطان پستان ایفا می کند و تاثیر خود را روی بیان ژن های هدف از طریق گیرنده های استروژن اعمال می کند. اما گروه دیگری از گیرنده های هسته ای به نام گیرنده های مرتبط به ا...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2000
ISSN: 0002-9297
DOI: 10.1086/302723