Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias
نویسندگان
چکیده
منابع مشابه
A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia
Hereditary spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders for which 14 different genetic loci have been identified. In some SCA types, expanded trior pentanucleotide repeats have been identified, and the length of these expansions correlates with the age at onset and with the severity of the clinical phenotype. In several other...
متن کاملcrouzon syndrome: a fibroblast growth factor receptor 2 gene mutation
crouzon syndrome is a rare autosomal dominant premature cranyosynostosis, caused by fibroblast growth factor receptor 2 gene mutation on chromosome 10. the predominant skull and facial malformations with potential compromise airway make the crouzon syndrome a demanding issue for anesthesiologists and surgeons, required dynamic team work. in this report we describe a child, a known case of crouz...
متن کاملFactor V Leiden, MTHFR C677T and Prothrombin Gene Mutation G20210A in Iranian Patients with Venous Thrombosis
Background: Factor V Leiden, Prothrombin gene (G20210A) and MTHFR (C677T) polymorphism are the main biomarkers for evaluation of tendency for venous thromboembolism. We aimed to investigate the frequency of mutations in factor V Leiden, Prothrombin G20210A and MTHFR C677T and identify the genetic status for these mutations in patients with venous thrombosis. Methods: This study was carried out...
متن کاملDe novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency.
BACKGROUND/AIMS Missense, nonsense, and splice mutations in the Fibroblast Growth Factor 8(FGF8) have recently been identified in patients with hypothalamo-pituitary dysfunction and craniofacial anomalies. Here, we report a male patient with a frameshift mutation in FGF8. CASE REPORT The patient exhibited micropenis, craniofacial anomalies, and ventricular septal defect at birth. Clinical eva...
متن کاملNovel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2004
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201286