Case report: A novel KIT mutation results in piebaldism with progressive depigmentation

Journal of the American Academy of Dermatology

Volumn 44, Issue 2, 2001, Pages 288-292

  Richards, Kristen A ^a,b   Fukai, Kazuyoshi ^a,b   Oiso, Naoki ^a,b   Paller, Amy S ^a,b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MICROPHTHALMIA ACTIVATING TRANSCRIPTION FACTOR; PROTEIN TYROSINE KINASE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; STEM CELL FACTOR RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CODON; DEPIGMENTATION; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERPIGMENTATION; LEUKODERMA; MELANOCYTE; PHENOTYPE; PIEBALDISM; PRIORITY JOURNAL; VITILIGO; WAARDENBURG SYNDROME; ADULT; DNA SEQUENCE; GENETICS; MISSENSE MUTATION; PEDIGREE;

ADULT; CHILD; FEMALE; HUMANS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PIEBALDISM; PROTO-ONCOGENE PROTEINS C-KIT; SEQUENCE ANALYSIS, DNA;

EID: 0035261299     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1067/mjd.2001.112221     Document Type: Article

References (36)

1. Congenital disorders of hypopigmentation
2. 41, and W
3. W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor
4. 42 spotting phenotype results from a missense mutation in the c-kit receptor kinase
5. f mice with a Kit kinase-domain mutation
6. Molecular basis of human piebaldism
7. Piebaldism
8. Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene
9. Waardenburg syndrome type 2 caused by mutations in the human micropthalmia (MITF) gene
10. A non-radioactive method for simultaneous detection of single-strand conformation polymorphisms (SSCPs) and heteroduplexes
11. Recommendations for a nomenclature system for human gene mutations
12. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences
13. Familial white skin spotting (piebaldness) ("partial albinism") with white forelock
14. Piebaldness or familial white spotting (partial albinism)
15. Partial albinism; nine cases in six generations
16. Expansion and contraction of hypomelanotic areas in human piebaldism
17. Tyrosinase-positive melanocyte distribution and induction of pigmentation in human piebald skin
18. Acquired pigmented macules in human piebald lesions: Ultrastructure of melanocytes in hypomelanotic skin
19. Mutations in the PAX3 gene causing Waardenburg's syndrome type 1 and type 2
20. Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: Implications for human piebaldism and mouse dominant white spotting (W)
21. In utero manipulation of coat color formation by a monoclonal anti-c-kit antibody: Two distinct waves of c-kit-dependency during melanocyte development
22. Expression of the c-kit receptor in hypomelanosis: A comparative study between piebaldism, naevus depigmentosus and vitiligo
23. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism
24. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism
25. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism
26. Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism
27. Mutations in the ligand-binding domain of the Kit receptor: An uncommon site in human piebaldism
28. Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene
29. A novel KIT gene missense mutation in a Japanese family with piebaldism
30. Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism
31. A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism
32. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene
33. A 12-bp deletion (7818dell.2) in the c-kit protooncogene in a large Italian kindred with piebaldism
34. Deletion of the c-kit protooncogene in the human developmental defect piebald trait
35. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation