Two children with a mild or moderate piebaldism phenotype and a father without leukoderma in a family with the same recurrent missense mutation in the kinase domain of KIT

European Journal of Dermatology

Volumn 21, Issue 3, 2011, Pages 446-447

  Narita, Tomohiko ^a   Oiso, Naoki ^a   Fukai, Kazuyoshi ^b   Motokawa, Tomonori ^c   Hayashi, Masahiro ^d   Yokoyama, Kouji ^c   Hozumi, Yutaka ^d   Kawada, Akira ^a   Suzuki, Tamio ^d  

^a KINKI UNIVERSITY   (Japan)

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

^c POLA CHEMICAL INDUSTRIES INC   (Japan)

^d YAMAGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CAFE AU LAIT SPOT; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FAMILY HISTORY; FEMALE; GENE; GENE AMPLIFICATION; GENETIC ASSOCIATION; HUMAN; JAPANESE; KIT GENE; LETTER; LEUKODERMA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PENETRANCE; PHENOTYPE; PHYSICAL EXAMINATION; PIEBALDISM; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN COLOR;

CHILD; CHILD, PRESCHOOL; DNA; FATHERS; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE; PHOSPHOTRANSFERASES; PIEBALDISM; PROTO-ONCOGENE PROTEINS C-KIT;

EID: 79960755924     PISSN: 11671122     EISSN: 19524013     Source Type: Journal    
DOI: 10.1684/ejd.2011.1350     Document Type: Letter

References (6)

1. Giebel LB, Spritz RA. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci U S A 1991; 88: 8696-9.
2. Spritz RA, Giebel LB, Holmes SA. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Am J Hum Genet 1992; 50: 261-9.
3. Murakami T, Fukai K, Oiso N, et al. New KIT mutations in patients with piebaldism. J Dermatol Sci 2004; 35: 29-33.
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5. Oiso N, Kishida K, Fukai K, et al. A Japanese piebald patient with auburn hair colour associated with a novel mutation p.832L in the KIT gene and a homozygous variant p. I120T in the MC1R gene. Br J Dermatol 2009; 161: 468-9.
6. Ito S, Suzuki T, Inagaki K, et al. Two novel mutations detected in Japanese patients with oculocutaneous albinism. J Dermatol Sci 2006; 44: 116-8.