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Titolo:
FAMILIAL NEUROFIBROMATOSIS-1 MICRODELETIONS - COSEGREGATION WITH DISTINCT FACIAL PHENOTYPE AND EARLY-ONSET OF CUTANEOUS NEUROFIBROMAS
Autore:
LEPPIG KA; KAPLAN P; VISKOCHIL D; WEAVER M; ORTENBERG J; STEPHENS K;
Indirizzi:
UNIV WASHINGTON,DIV MED GENET,DEPT PEDIAT,1959 NE PACIFIC ST,ROOM I-204,BOX 357720 SEATTLE WA 98195 UNIV WASHINGTON,DIV MED GENET,DEPT PEDIAT SEATTLE WA 98195 UNIV WASHINGTON,DEPT MED SEATTLE WA 98195 UNIV WASHINGTON,DEPT LAB MED SEATTLE WA 98195 UNIV PENN,CHILDRENS HOSP PHILADELPHIA,DIV METAB PHILADELPHIA PA 19104 UNIV UTAH,DEPT PEDIAT SALT LAKE CITY UT 00000 MCGILL UNIV,MONTREAL CHILDRENS HOSP MONTREAL PQ H3H 1P3 CANADA
Titolo Testata:
American journal of medical genetics
fascicolo: 2, volume: 73, anno: 1997,
pagine: 197 - 204
SICI:
0148-7299(1997)73:2<197:FNM-CW>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
MALIGNANT MYELOID DISORDERS; TYPE-1 NEUROFIBROMATOSIS; NOONAN SYNDROME; NF1 GENE; DNA DELETION; POLYMORPHISM; MUTATIONS; CELLS; CHILDREN; LINKAGE;
Keywords:
NEUROFIBROMAS; TUMORIGENESIS; CONTIGUOUS GENE DELETION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
47
Recensione:
Indirizzi per estratti:
Citazione:
K.A. Leppig et al., "FAMILIAL NEUROFIBROMATOSIS-1 MICRODELETIONS - COSEGREGATION WITH DISTINCT FACIAL PHENOTYPE AND EARLY-ONSET OF CUTANEOUS NEUROFIBROMAS", American journal of medical genetics, 73(2), 1997, pp. 197-204

Abstract

A notable subset of the recent literature on the disorder neurofibromatosis type 1 (NF1) describes patients with NF1, facial anomalies, andother unusual findings, We describe a molecular re-evaluation of two such families reported previously by Kaplan and Rosenblatt [1985], whosuggested that their NF1 manifestations, facial phenotype, and other findings could result from a disorder distinct from NF1, Submicroscopic deletions involving the NF1 gene were identified in both families byfluorescent in situ hybridization and analysis of somatic cell hybrids, Affected subjects of the first family were heterozygous for a microdeletion of approximately 2 Mb, which included the entire NF1 gene andflanking contiguous sequences, The family was remarkable for cosegregation of the NF1 microdeletion with facial abnormalities and a patternof early onset of cutaneous neurofibromata upon transmission from an affected mother to her three affected children, The propositus of the second family carried a deletion that at the least involved NF1 exon 2through intron 27, which is greater than or equal to 200 kilobases inlength, Because all persons in the family were deceased, the size of the deletion could not be determined precisely, Facial anomalies were observed in the propositus and his NF1-affected mother and sister, Thedata from these families support our hypothesis, which was initially based solely on sporadic deletion cases, that deletion of the entire NF1 gene, or in conjunction with deletion of unknown contiguous genes, causes the facial anomalies and early onset of neurofibromata observedin this subset of NF1 patients, In addition, other features observed in the persons in these families suggest that some NF1 microdeletion patients may be at increased risk for connective tissue abnormalities and/or neoplasms. (C) 1997 Wiley-Liss, Inc.

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Documento generato il 01/12/20 alle ore 07:34:56