✦ LIBER ✦

RB1 gene mutations in retinoblastoma

✍ Scribed by Dietmar R. Lohmann

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 237 KB
Volume: 14
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(199910)14:4<283::aid-humu2>3.0.co;2-j

No coin nor oath required. For personal study only.

✦ Synopsis

Mutations in both alleles of the RB1 gene are causal for the development of retinoblastoma, a childhood tumor of the eye. The spectrum of somatic and germline mutations in this gene is dominated by small mutations. Data on small mutations are listed in a locus specific database available at http://www.d-lohmann.de/Rb/mutations.html. Analysis of 368 reported small mutations reveals considerable heterogeneity. A notable recurrence of transitions is observed at 13 CpG-dinucleotides that are part of CGA codons or splice donor sites. Most mutations create a premature termination codon. With few exceptions, patients heterozygous for mutations of this kind develop bilateral retinoblastoma. Missense mutations and inframe deletions are rare. Some of these mutations are associated with a distinct phenotype marked by incomplete penetrance and reduced expressivity.

📜 SIMILAR VOLUMES

A novel complex mutation in exon 8 of RB

A novel complex mutation in exon 8 of RB1 in a case of isolated bilateral retinoblastoma

✍ Javier Alonso; Purificación García-Miguel; José Abelairas; Angel Pestaña 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB

Low frequency of oncogenic mutations in

Low frequency of oncogenic mutations in the core promoter region of the RB1 gene

✍ Tsuyoshi Fujita; Naoko Ohtani-Fujita; Toshiyuki Sakai; Joyce M. Rapaport; Thadde 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB 👁 1 views

Inactivation of the human retinoblastoma tumor-suppressor gene (RB1; MIM # 180200) is usually caused by mutations in the coding region, but mutations in the promoter region can also affect RB1 gene expression. A 103-bp deletion in the promoter region in a prostate cancer was reported to abrogate RB1

“Disorganization” gene in mutations

✍ Winter, Robin M. ;Donnai, Dian 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB 👁 2 views

Mutations in the adrenoleukodystrophy ge

Mutations in the adrenoleukodystrophy gene

✍ Andrew Dodd; Shelley A. Rowland; Sheryl L. J. Hawkes; Martin A. Kennedy; Donald 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 182 KB 👁 2 views

Adrenoleukodystrophy (ALD) is a peroxisomal disorder that commonly manifests as demyelination of the central nervous system (CNS). The isolation of the ALD gene by positional cloning has led to the identification of a variety of mutations in the ALD gene. One hundred and ten mutations have been iden

Deletion in one allele and a rare neutra

Deletion in one allele and a rare neutral DNA alteration in the other allele of the RB1 gene in a patient with bilateral retinoblastoma

✍ Horsthemke, Bernhard ;Brandt, Birgit ;Albrecht, Beate ;Passarge, Eberhard 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB 👁 2 views

Six novel mutations in the neurofibromat

Six novel mutations in the neurofibromatosis type 1 (NF1) gene

✍ M Upadhyaya; J Maynard; M Osborn; PS Harper 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB 👁 2 views