Mosaicism in genetic skin disorders

Pediatric Dermatology

Volumn 23, Issue 1, 2006, Pages 87-92

  Siegel, Dawn H ^a,c   Sybert, Virginia P ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 17; GENE PRODUCT; KERATIN; KERATIN 10; KERATIN TYPE 1; PROTEIN ATP2C1; PROTEIN GNAS1; PROTEIN NF1; UNCLASSIFIED DRUG;

ACHONDROPLASIA; ALBRIGHT SYNDROME; ANHIDROTIC HEREDITARY ECTODERMAL DYSPLASIA; ARTICLE; CAFE AU LAIT SPOT; CHIMERA; CHROMOSOME MOSAICISM; CLINICAL FEATURE; DISEASE CLASSIFICATION; DYSPLASIA; EPIDERMOLYSIS BULLOSA; EPIGENETIC MOSAICISM; FUNCTIONAL MOSAICISM; GENE MUTATION; GENODERMATOSIS; GOLTZ SYNDROME; GONADAL MOSAICISM; GONOSOMAL MOSAICISM; HAILEY HAILEY DISEASE; HUMAN; HYPERKERATOSIS; INCONTINENTIA PIGMENTI; KLINEFELTER SYNDROME; MOSAICISM; NEUROFIBROMATOSIS; OSTEOGENESIS IMPERFECTA; PEDIATRICS; POINT MUTATION; PRIORITY JOURNAL; RASH; RECURRENT DISEASE; REVERTANT MOSAICISM; SKIN DISEASE; SKIN PIGMENTATION; TUBEROUS SCLEROSIS; X CHROMOSOME; X CHROMOSOME LINKAGE;

ADOLESCENT; AGE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; FEMALE; GENE EXPRESSION REGULATION; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOSAICISM; PREVALENCE; PROGNOSIS; RISK ASSESSMENT; SEX DISTRIBUTION; SKIN DISEASES, GENETIC;

EID: 33645216142     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2006.00180.x     Document Type: Article

References (22)

1. Byers PH Tsipouras P Bonadio JF et al. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 1988 42 237 248.
2. Paller AS Syder AJ Chan YM et al. Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med 1994 331 1408 1415.
3. Happle R. Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. Am J Med Genet 1996 66 241 242.
4. Poblete-Gutierrez P Wiederholt T Konig A et al. Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. J Clin Invest 2004 114 1467 1474.
5. Ruggieri M Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 2001 56 1433 1443.
6. Tinschert S Naumann I Stegmann E et al. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet 2000 8 455 459.
7. Consoli C Moss C Green S et al. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. J Invest Dermatol 2005 125 463 466.
8. Happle R. The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet 1986 29 321 324.
9. Weinstein LS Yu S Warner DR Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 2001 22 675 705.
10. Taibjee SM Bennett DC Moss C. Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes. Br J Dermatol 2004 151 269 282.
11. Happle R. Cutaneous manifestation of lethal genes. Hum Genet 1986 72 280.
12. Smahi A Courtois G Vabres P et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000 405 466 472.
13. Cambiaghi S Restano L Paakkonen K et al. Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia. Arch Dermatol 2000 136 217 224.
14. Dupin E Le Douarin NM. Development of melanocyte precursors from the vertebrate neural crest. Oncogene 2003 22 3016 3023.
15. Moss C. Cytogenetic and molecular evidence for cutaneous mosaicism: the ectodermal origin of Blaschko lines. Am J Med Genet 1999 85 330 333.
16. Happle R. Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 1993 129 1460 1470.
17. Darling TN Yee C Bauer JW et al. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation. J Clin Invest 1999 103 1371 1377.
18. Jonkman MF Castellanos Nuijts M van Essen AJ. Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders. Clin Exp Dermatol 2003 28 625 631.
19. Jonkman MF Scheffer H Stulp R et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 1997 88 543 551.
20. Pasmooij AM Pas HH Deviaene FC et al. Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. Am J Hum Genet 2005 77 727 740.
21. Smith FJ Morley SM McLean WH. Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol 2004 122 73 77.
22. Druker R Whitelaw E. Retrotransposon-derived elements in the mammalian genome: a potential source of disease. J Inherit Metab Dis 2004 27 319 330.