Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism

Clinical Genetics

Volumn 85, Issue 4, 2014, Pages 386-389

  Trevisson, E ^a   Forzan, M ^a   Salviati, L ^a   Clementi, M ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

Germline mosaicism; Neurofibromatosis type 1; NF1; Segmental NF1

Indexed keywords

MICROSATELLITE DNA; NEUROFIBROMIN;

ALLELE; ARTICLE; CASE REPORT; FEMALE; GENETIC ASSOCIATION; GERM LINE; GERMLINE MOSAICISM; HUMAN; LYMPHOCYTE; MOSAICISM; MOTHER; NEUROFIBROMATOSIS; NEUROPATHOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING; SIBLING; GENETICS; GERMLINE MUTATION; NEUROFIBROMATOSIS 1; PEDIGREE;

FEMALE; GERM-LINE MUTATION; HUMANS; MOSAICISM; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PEDIGREE; SIBLINGS;

EID: 84896711987     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12177     Document Type: Article

References (21)

1. Clementi M, Barbujani G, Turolla L, Tenconi R. Neurofibromatosis-1: a maximum likelihood estimation of mutation rate. Hum Genet 1990: 84: 116-118.
2. Wallace MR, Marchuk DA, Andersen LB et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990: 249: 181-186.
3. Hersh JH. Health supervision for children with neurofibromatosis. Pediatrics 2008: 121: 633-642.
4. Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989: 26: 704-711.
5. Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 2001: 56: 1433-1443.
6. Kehrer-Sawatzki H, Cooper DN. Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes? J Med Genet 2008: 45: 622-631.
7. NIH-consensus-statement. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988: 45: 575-578.
8. Clementi M, Boni S, Mammi I, Favarato M, Tenconi R. Clinical application of genetic polymorphism in neurofibromatosis type 1. Ann Genet 1996: 39: 92-96.
9. Purandare SM, Cawthon R, Nelson LM et al. Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus. Am J Hum Genet 1996: 59: 159-166.
10. Cawthon RM, Weiss R, Xu GF et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990: 62: 193-201.
11. De Luca A, Schirinzi A, Buccino A et al. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. Hum Mutat 2004: 23: 629.
12. Pauli S, Pieper L, Haberle J et al. Proven germline mosaicism in a father of two children with CHARGE syndrome. Clin Genet 2009: 75: 473-479.
13. Barbosa RH, Vargas FR, Aguiar FC et al. Hereditary retinoblastoma transmitted by maternal germline mosaicism. Pediatr Blood Cancer 2008: 51: 598-602.
14. Palmeri S, Mari F, Meloni I et al. Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism. Clin Genet 2003: 63: 510-515.
15. Riccardi VM, Lewis RA. Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants. Am J Hum Genet 1988: 42: 284-289.
16. Lazaro C, Ravella A, Gaona A, Volpini V, Estivill X. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med 1994: 331: 1403-1407.
17. Klose A, Peters H, Hoffmeyer S et al. Two independent mutations in a family with neurofibromatosis type 1 (NF1). Am J Med Genet 1999: 83: 6-12.
18. Lazaro C, Gaona A, Lynch M, Kruyer H, Ravella A, Estivill X. Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism. Am J Hum Genet 1995: 57: 1044-1049.
19. Bottillo I, Torrente I, Lanari V et al. Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion. Am J Med Genet A 2010: 152A: 1467-1473.
20. Jadayel D, Fain P, Upadhyaya M et al. Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature 1990: 343: 558-559.
21. Newcombe RG. Two-sided confidence intervals for the single proportion: comparison of seven methods. Stat Med 1998: 17: 857-872.