Homozygous and compound heterozygous mutations at the Werner syndrome locus.
نویسندگان
چکیده
The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder. The Werner syndrome gene (WRN) has recently been identified as a member of the helicase family. Four distinct mutations were previously reported in three Japanese and one Syrian WS pedigrees. The latter mutation was originally described as a 4 bp deletion spanning a spliced junction. It is now shown that this mutation results in a 4 bp deletion at the beginning of an exon. Nine new WRN mutations in 10 additional WS patients, both Japanese and Caucasian, are described. These include three compound heterozygotes (one Japanese and two Caucasian). The new mutations are located all across the coding region.
منابع مشابه
Efficient Production of Biallelic RAG1 Knockout Mouse Embryonic Stem Cell Using CRISPR/Cas9
Background: Recombination Activating Genes (RAG) mutated embryonic stem cells are (ES) cells which are unable to perform V (D) J recombination. These cells can be used for generation of immunodeficient mouse. Creating biallelic mutations by CRISPR/Cas9 genome editing has emerged as a powerful technique to generate site-specific mutations in different sequences. Ob...
متن کاملContribution of GJB2 Mutations and Four Common DFNB Loci in Autosomal Recessive Non-Syndromic Hearing Impairment in Markazi and Qom Provinces of Iran
This study aimed to investigate the contribution of four common DFNB (“DFN” for deafness and “B” for autosomal resessive locus) loci and GJB2 gene mutations (exon 2) in hearing impairment in individuals living in Markazi and Qom provinces of Iran. Forty consanguineous Iranian families with at least three affected individuals in family or pedigree who suffer from an autosomal recessive non-syndr...
متن کاملPatients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to standard steroid therapy. It remains one of the most intractable causes of ESRD in the first two decades of life. Mutations in the NPHS2 gene represent a frequent cause of SRNS, occurring in approximately 20 to 30% of spor...
متن کاملNovel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family
PURPOSE To identify the disease-causing gene in a four-generation Chinese family affected with retinitis pigmentosa (RP). METHODS Linkage analysis was performed with a panel of microsatellite markers flanking the candidate genetic loci of RP. These loci included 38 known RP genes. The complete coding region and exon-intron boundaries of Usher syndrome 2A (USH2A) were sequenced with the proban...
متن کاملGenotype Pattern of Pediatric Familial Mediterranean Fever in Jordan: A Single Center Experience
Background Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Mediterranean ancestry, mostly Armenian, Turkish, Jewish and Arab populations. We aimed to describe genotype pattern of FMF in the Jordanian children and to compare it with other populations. Materials and Methods A retros...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Human molecular genetics
دوره 5 12 شماره
صفحات -
تاریخ انتشار 1996