J Med Genet. 1990 Dec;27(12):738-41.

A 90 kb DNA deletion associated with neurofibromatosis type 1.

Upadhyaya M, Cheryson A, Broadhead W, Fryer A, Shaw DJ, Huson S, Wallace MR, Andersen LB, Marchuk DA, Viskochil D, et al.

Source

Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.

Abstract

A deletion of 90 kb of DNA has been identified in a patient with neurofibromatosis type 1, using pulsed field gel electrophoresis. The deletion lies between probes 17L1A and AC5 in the critical region of chromosome 17 and represents the only molecular alteration found by PFGE in a series of 90 unrelated patients. The subject showing the deletion is an isolated case, shows typical clinical features, and represents one of the first examples of a molecular deletion to be found in this disorder.

PMID:: 2127432; [PubMed - indexed for MEDLINE]
PMCID:: PMC1017276

Free PMC Article

Publication Types, MeSH Terms, Substances

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

Substances

Genetic Markers

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia. [Am J Med Genet. 1991]
Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia.
Pulst SM, Pribyl T, Barker DF, Riccardi VM, Ren M, Yaari H, Korenberg JR. Am J Med Genet. 1991 Jul 1; 40(1):84-7.
Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. [Hum Genet. 2005]
Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.
Kehrer-Sawatzki H, Kluwe L, Fünsterer C, Mautner VF. Hum Genet. 2005 May; 116(6):466-75. Epub 2005 Mar 18.
Physical mapping of a translocation breakpoint in neurofibromatosis. [Science. 1989]
Physical mapping of a translocation breakpoint in neurofibromatosis.
Fountain JW, Wallace MR, Bruce MA, Seizinger BR, Menon AG, Gusella JF, Michels VV, Schmidt MA, Dewald GW, Collins FS. Science. 1989 Jun 2; 244(4908):1085-7.
Review Progress towards the isolation and characterization of the genes causing neurofibromatosis. [Cancer Surv. 1990]
Review Progress towards the isolation and characterization of the genes causing neurofibromatosis.
Menon AG, Gusella JF, Seizinger BR. Cancer Surv. 1990; 9(4):689-702.
Review Progress towards identifying the neurofibromatosis (NF1) gene. [Trends Genet. 1989]
Review Progress towards identifying the neurofibromatosis (NF1) gene.
Collins FS, O'Connell P, Ponder BA, Seizinger BR. Trends Genet. 1989 Jul; 5(7):217-21.

See reviews... See all...

Cited by 11 PubMed Central articles

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. [J Med Genet. 2006]
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
Mantripragada KK, Thuresson AC, Piotrowski A, Díaz de Ståhl T, Menzel U, Grigelionis G, Ferner RE, Griffiths S, Bolund L, Mautner V, et al. J Med Genet. 2006 Jan; 43(1):28-38. Epub 2005 Jun 8.
Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features. [J Med Genet. 1999]
Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.
Faravelli F, Upadhyaya M, Osborn M, Huson SM, Hayward R, Winter R. J Med Genet. 1999 Dec; 36(12):893-6.
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. [J Med Genet. 1998]
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.
Rasmussen SA, Colman SD, Ho VT, Abernathy CR, Arn PH, Weiss L, Schwartz C, Saul RA, Wallace MR. J Med Genet. 1998 Jun; 35(6):468-71.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

A 90 kb DNA deletion associated with neurofibromatosis type 1.
A 90 kb DNA deletion associated with neurofibromatosis type 1.
J Med Genet. 1990 Dec ;27(12):738-41.

PubMed
Vitamin D deficiency rickets mimicking pseudohypoparathyroidism.
Vitamin D deficiency rickets mimicking pseudohypoparathyroidism.
J Clin Res Pediatr Endocrinol. 2010 ;2(4):173-5. Epub 2010 Nov 8 .

PubMed
[Effect of alpha-interferon on the proliferation and differentiation of the "hai...
[Effect of alpha-interferon on the proliferation and differentiation of the "hairy cell"].
Haematologica. 1990 Jul-Aug ;75 Suppl 4:28-32.

PubMed
The family physician and special groups of hypertensives.
The family physician and special groups of hypertensives.
Can Fam Physician. 1985 Feb ;31:371-4.

PubMed
Xanthine and hypoxanthine in amniotic fluid during pregnancy.
Xanthine and hypoxanthine in amniotic fluid during pregnancy.
Dan Med Bull. 1990 Dec ;37(6):559-60.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: