Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese.

Literature DB >> 7903661

Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese.

T Horiuchi¹, N Hatta, M Matsumoto, H Ohtsuka, F S Collins, Y Kobayashi, S Fujita.

Abstract

We report two familial cases of NF1 presenting as C to T transitions changing an Arg-1947 codon to a stop codon. In one of the two families, cosegregation of the mutation with NF1 was demonstrated, indicating this mutation causes the disease in this family. As the same mutation at Arg-1947 has been reported previously in three cases of unrelated Caucasians (two are sporadic; the origin of the other is not reported), the codon at Arg-1947 (CGA) in the NF1 gene is considered to be a hotspot common among different ethnic groups and also among familial and sporadic cases.

Entities: Chemical Gene Mutation

Mesh：

Substances：

Year: 1994 PMID： 7903661 DOI： 10.1007/bf00218920

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

8 in total

1. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors: M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal: Genomics Date: 1989-11 Impact factor: 5.736

2. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

Authors: R M Cawthon; R Weiss; G F Xu; D Viskochil; M Culver; J Stevens; M Robertson; D Dunn; R Gesteland; P O'Connell
Journal: Cell Date: 1990-07-13 Impact factor: 41.582

3. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.

Authors: D A Marchuk; A M Saulino; R Tavakkol; M Swaroop; M R Wallace; L B Andersen; A L Mitchell; D H Gutmann; M Boguski; F S Collins
Journal: Genomics Date: 1991-12 Impact factor: 5.736

Review 4. The neurofibromatosis type 1 gene and its protein product, neurofibromin.

Authors: D H Gutmann; F S Collins
Journal: Neuron Date: 1993-03 Impact factor: 17.173

5. Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

Authors: X Estivill; C Lázaro; T Casals; A Ravella
Journal: Hum Genet Date: 1991-12 Impact factor: 4.132

6. Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene.

Authors: P J Ainsworth; D I Rodenhiser; M T Costa
Journal: Hum Genet Date: 1993-03 Impact factor: 4.132

7. Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

Authors: M Upadhyaya; M Shen; A Cherryson; J Farnham; J Maynard; S M Huson; P S Harper
Journal: Hum Mol Genet Date: 1992-12 Impact factor: 6.150

8. cDNA cloning and expression of human complement component C2.

Authors: T Horiuchi; K J Macon; V J Kidd; J E Volanakis
Journal: J Immunol Date: 1989-03-15 Impact factor: 5.422

8 in total

5 in total

Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese.

1. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

2. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

3. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.

Review 4. The neurofibromatosis type 1 gene and its protein product, neurofibromin.

5. Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

6. Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene.

7. Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

8. cDNA cloning and expression of human complement component C2.

1. Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1.

2. Production of the third and fourth component of complement (C3, C4) by smooth muscle cells.

3. Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation.

4. Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

5. Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.