X-linked ichthyosis in Mexico: High frequency of deletions in the steroid sulfatase encoding gene

American Journal of Medical Genetics

Volumn 72, Issue 4, 1997, Pages 415-416

  Cuevas Covarrubias, S A ^a,e   Kofman Alfaro, S H ^a   Maya Nunez G ^b   Díaz Zagoya, Juan C ^c   Orozco Orozco, E ^d  

^a HOSPITAL GENERAL DE MÉXICO   (Mexico)

^b INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^c UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^d DEPARTAMENTO DE FÍSICA   (Mexico)

^e HOSPITAL GENERAL DE MÉXICO   (Mexico)

Author keywords

Human leukocytes; STS gene deletion; X linked ichthyosis

Indexed keywords

PRASTERONE SULFATE; STERYL SULFATASE;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; FEMALE; FREQUENCY ANALYSIS; GENE AMPLIFICATION; GENE DELETION; GENE FREQUENCY; HUMAN; HUMAN CELL; HUMAN TISSUE; ICHTHYOSIS; MALE; MEXICO; PRIORITY JOURNAL; SCORING SYSTEM;

ARYLSULFATASES; GENE DELETION; GENE FREQUENCY; HUMANS; ICHTHYOSIS, X-LINKED; MEXICO; POLYMERASE CHAIN REACTION; STERYL-SULFATASE;

EID: 0030731869     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971112)72:4<415::AID-AJMG8>3.0.CO;2-P     Document Type: Article

References (16)

1. Ballabio A, Ranier JE, Chamberlain JS, Zollo M, Caskey CT (1990): Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Hum Genet 84:571-572.
2. Basler E, Grompe M, Parenti G, Yates J, Ballabio A (1992): Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am J Hum Genet 50:483-191.
3. Bonifas JM, Morley BJ, Oakey RE, Wai Y, Epstein EH (1987): Cloning of cDNA for steroid sulfatase: Frequent occurrence of gene deletions in patients with recessive X-chromosome-linked ichthyosis. Proc Natl Acad Sci USA 84:9248-9251.
4. Cuevas S, Kofman S, Orozco E, Díaz J (1995): The biochemical identification of carrier state in mothers of sporadic cases of X-linked recessive ichthyosis. Genet Counsel 6:103-107.
5. Epstein EH, Leventhal ME (1981): Steroid sulfatase of human leucocytes and epidermis and the diagnosis of recessive X-linked ichthyosis. J Clin Invest 67:1257-1262.
6. Fan X, Petuschka L, Wulff K, Grimm U, Herrmann FH (1993): Biochemical and immunological characterization of X-linked ichthyosis. J Inherited Metab Dis 16:17-26.
7. Lench N, Stainer P, Williamson R (1988): Simple non-invasive method to obtain DNA for gene analysis. Lancet 1:1356-1358.
8. Li M (1992): Gene deletion of X-linked ichthyosis. Chung Hua I Hsueh Tsa Chih 72:210-212.
9. Matsumoto T, Sakura N, Uedak (1990): Steroid sulfatase activity in nails: Screening for X-linked ichthyosis. Pediatr Dermatol 7:266-269.
10. Muller C, Walhstrom J, Rogers H (1981): Further evidence for the assignment of steroid sulfatase X-linked ichthyosis locus to the telomere of Xp. Hum Genet 58:446.
11. Okano M, Kitano Y, Yoshikawa K, Nakamura T, Matsuzawa Y, Yuasa T (1988): X-linked ichthyosis and ichthyosis vulgaris: Comparison of their clinical features based on biochemical analysis. Br J Dermatol 119:777-783.
12. Shapiro LJ, Weiss R (1978): X-linked ichthyosis due to steroid sulphatase deficiency. Lancet 1:70-72.
13. Shapiro LJ, Yen P, Pomerantz D, Martin E, Rolewic L, Mohandas T (1989): Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci USA 86:8477-8481.
14. Shayder T, Ott F (1991): All about ichthyosis. Pediatr Clin North Am 38:835-857.
15. Williams MI, Elias PM (1981): Stratum corneum lipids in disorders of cornification. J Clin Invest 65:1404-1410.
16. Yen PH, Allen E, Birgit M, Mohandas T, Wang N, Taggart RT, Shapiro LJ (1987): Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implications for X-Y interchange. Cell 49:443-454.