Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion

Human Mutation

Volumn 9, Issue 5, 1997, Pages 452-457

  Ainsworth, P J ^a,b   Chakraborty, P K ^a   Weksberg, R ^c  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

^b CHILDREN S HOSPITAL OF WESTERN ONTARIO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

deletion; mosaicism; neurofibromatosis; parental origin

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE LOCUS; HAPLOTYPE; HEMIZYGOSITY; HUMAN; MOSAICISM; MUTATION RATE; NEUROFIBROMATOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; SPONTANEOUS MUTATION;

ADULT; ALLELES; CHILD, PRESCHOOL; FEMALE; GENE DELETION; GENES, NEUROFIBROMATOSIS 1; GENOMIC IMPRINTING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; NEUROFIBROMATOSIS 1; PEDIGREE;

EID: 0030984645     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:5<452::AID-HUMU12>3.0.CO;2-1     Document Type: Article

References (10)

1. Bourn D, Carter SA, Evans DG, Goodship J, Coakham H, Strachan T (1994) A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 55:69-73.
2. Colman SD, Rasmussen SA, Ho VT, Abernathy CR, Wallace MR (1996) Somatic mosaicism in a patient with neurofibromatosis type 1. Am J Hum Genet 58:484-490.
3. Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Franke U (1988) Intragenic deletions in 21 muscular dystrophy (DMD)/ Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA. Location of breakpoints on HindIII and BglII exon containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet 43:620-629.
4. Easton DF, Ponder MA, Huson SM, Ponder BAJ (1993) An analysis of variation in expression of Neurofibromatosis (NF) type 1 (NF1): Evidence for modifying genes. Am J Hum Genet 53:305-313.
5. Heim RA, Kam-Morgan LN, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 4:975-81.
6. Huson SM, Compston DAS, Clark P, Harper PS (1989) A genetic study of von Recklinghausen neurofibromatosis in southeastern Wales. I. Prevalence, fitness, mutation rate, and the affect of parental transmission on severity. J Med Genet 26:704-711.
7. Rodenhiser DI. Coulter-Mackie MB, Jung JH, Singh SM (1991) A genetic study of neurofibromatosis 1 in south-western Ontario. I. Population, familial segregation of phenotype and molecular linkage. J Med Genet 28:746-751.
8. Rodenhiser D, Ainsworth P, Coulter-Mackie M, Singh S, Jung J (1993) A genetic study of neurofibromatosis 1 (NF1) in southwestern Ontario. II PCR based approach to molecular and prenatal diagnosis using linkage. J Med Genet 30:363-368.
9. Rubenstein AE, Korf BR (1990) Neurofibromatosis: A Handbook for Patients, Families and Health-care Professionals. Stuttgart: Thieme.
10. Sergeyev AS (1975) On the mutation rate of neurofibromatosis. Hum Genet 28:129-138.