A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome [1]

Journal of Dermatological Science

Volumn 33, Issue 1, 2003, Pages 67-69

  Murata, Kaoru ^a   Shinkai, Hiroshi ^a   Ishikiriyama, Satoshi ^b   Yamazaki, Masaaki ^c   Fukuzumi, Yasuhito ^c   Hatamochi, Atsushi ^d  

^a CHIBA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b CHIBA CHILDREN'S HOSPITAL   (Japan)

^c Fujiya Co   (Japan)

^d DOKKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ACANTHOSIS; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM NEVUS AND LIMB DEFECT SYNDROME; DNA DETERMINATION; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERKERATOSIS; INFANT; INTRAUTERINE INSEMINATION; LETTER; LYMPHOCYTIC INFILTRATION; MEDICAL EXAMINATION; PARAKERATOSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN BIOPSY; SKIN FIBROBLAST;

EID: 0141646514     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0923-1811(03)00151-8     Document Type: Letter

References (10)

1. Happle R., Koch H., Lenz W. The CHILD syndrome. Eur. J. Pediatr. 134:1980;27-33.
2. Konig A., Happle R., Bornholdt D., Engel H., Grzeschik K.-H. Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am. J. Med. Gene. 90:2000;339-346.
3. Konig A., Happle R., Fink-Puches R., Soyer H.P., Bornholdt D., Engel H., Grzeschik K.-H. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. J. Am. Acad. Dermatol. 46:2002;594-596.
4. Kida E. A case of CHILD syndrome. Med. Genet. Res. 14:1992;54.
5. Yokote R., Inuzuka K., Tokura Y., Takigawa M. A case of CHILD syndrome. Jpn. J. Clin. Dermatol. 49:1995;796-799.
6. Takada N., Murakami J., Shimomura T., Tanabe T., Sugimoto Y., Yamamoto Y., Sasaki R. Two cases of CHILD syndrome. J. Jpn. Paediatr. Orthop. Assoc. 5:1995;80-85.
7. Kitoh Y., Matsumoto K., Hashizume H., Tokura Y., Takigawa M. A case of CHILD syndrome. Jpn. J. Dermatol. 112:2002;672.
8. Hatamochi A., Ono M., Ueki H., Namba M. Regulation of collagen gene expression by transformed human fibroblasts: decreased type I and type III collagen RNA transcription. J. Invest. Dermatol. 96:1991;473-477.
9. Hebert A.A., Esterly N.B., Holbrook K.A., Hall J.C. The CHILD syndrome, histologic and ultrastructural studies. Arch. Dermatol. 123:1987;503-509.
10. Liu X.Y., Dangel A.W., Kelly R.I., Zhao W., Denny P., Botcherby M., Cattanach B., Peter J., Hunsicker P.R., Mallon A.-M., Strivens M.A., Bate R., Miller W., Phodes M., Brown S.D.M., Herman G.E. The gene mutated in bare patches and striated mice encodes a novel 3β-hydroxysteroid dehydrogenase. Nat. Genet. 22:1999;182-187.