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 A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected].

Literature DB >> 7705843

A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected].

L Kluwe¹, S M Pulst, J Köppen, V F Mautner.

Abstract

We have analyzed cDNA from a 46-year-old atypical neurofibromatosis type 2 (NF2) patient who had lumbar tumors, cataract and schwannomas of peripheral nerves but no vestibular schwannomas, and have identified a 163-bp deletion in the NF2 transcript. The deletion is predicted to remove 54, alter 15 and add four extra amino acids at the C-terminus of the NF2-gene product. The same deletion was found in her two daughters and in a 3-year-old grandson. Bilateral vestibular schwannomas were detected in the two asymptomatic daughters, whereas no abnormality was found in the grandson.

Entities: Disease Gene Species

Mesh：

Substances：
DNA, Neoplasm

Year: 1995 PMID： 7705843 DOI： 10.1007/bf00208973

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

12 in total

A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected].

1. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

2. CA-repeat polymorphism at the D22S430 locus adjacent to NF2.

3. Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.

4. Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.

5. Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas.

6. Neurofibromatosis 2 in the pediatric age group.

7. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.

8. A clinical study of type 2 neurofibromatosis.

9. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.

10. Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.

1. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.

2. A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.