The gene for autosomal dominant hidrotic ectodermal dysplesia (clouston syndrome) in a large indian family maps to the 13q11-q12.1 pericentromeric region

American Journal of Medical Genetics

Volumn 71, Issue 1, 1997, Pages 80-86

  Radhakrisfana, Uppala ^a,b,c,d   Blouin, Jean Louis ^a,b,c,d   Mehenni, Hamid ^a,b,c,d   Mehta, Timir Y ^a,b,c,d   Sheth, Freany J ^a,b,c,d   Sheth, Jayesh J ^a,b,c,d   Solanki, Jitendra V ^a,b,c,d   Antonarakis, Stylianos E ^a,b,c,d  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b Genetics Center   (India)

^c VETERINARY COLLEGE   (India)

^d Center Médical Universitaire   (Switzerland)

Author keywords

Chromosome 13q11 q12.1; Clouston syndrome; Dna polymorphisms; Hidrotic ectodermal dysplasia; Linkage analysis

Indexed keywords

ALOPECIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 13Q; CLOUSTON SYNDROME; DNA POLYMORPHISM; ECTODERMAL DYSPLASIA; GENETIC LINKAGE; HUMAN; HYPERHIDROSIS; HYPOTRICHOSIS; INDIAN; KERATOSIS PALMARIS; MOLECULAR CLONING; NAIL DYSPLASIA; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 13; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; FEMALE; GENETIC MARKERS; HUMANS; INDIA; LINKAGE (GENETICS); MALE; PEDIGREE; POLYMORPHISM, GENETIC;

SOLEIDAE;

EID: 0030911627     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Albritton LM, Bowcock AM, Eddy RL, Morton CC, Tseng L, Farrer LA, Cavalli-Sforza, LL, Shows TB, Cunningham JM (19925: The human cationic amino acid transporter (ATRC1): Physical and genetic mapping to 13ql2-ql4. Genomks 12:430-434.
2. Ando Y, Tanaka T. Horiguchi Y, Ikai K, Tomono H (1988): Hidrotic ec:odermal dysplasia. Derrnatologica 176:205-211.
3. Bowcock AM, Gerken SC, Barnes RI, Shiang E, Jabs EW, Warren AC, Antonarakis SE, Retief AE, Vurgnaud G, Leppert M, Lallouel JM, White RL, CavaUi-Sforza LL (1993): The CEPH Consortium Linkage map of human chromosome 13. Genomics 16:486-496.
4. Buetow KH, Weber ,TL, Ludwigsen S, Scherpbier-Heddema T, Duyk GM, Sheffield VC, Wang Z, Murray JC (1994): Integrated human genom...wide maps constructed using the CEPH reference pant-ï. Nat Genet 6:391-393.
5. Chaib H, t.ina-Granade G, Guilford P, Plauchu H, Leviliiers J, Morgon A, Petit C ;1994): A gene responsible for a dominant form of neurosenaory non-syndroniic deafness maps to the NSRD1 recessive deafness gene interval. Hum Mol Genet 3:2219-2222.
6. Clousion HR (1929): Hereditary ectodermal dystrophy. Can Med Assoc J 21:18-31.
7. Clouston HR (1939): The major forms of hereditary ectoderrnal dysplasia. Can Med Assoc J 40:1-7.
8. Cooperative Human Linkage Center (CHLC): Murray JC, Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Hedüema T, Manion F, Quillen J, Sheffield VC, Sunden S, Duyk GM; Généthon: Weissernbaoh J, Gyapay G, Jib C, Morissette J, Luthrop GM, Vignsl A; University of Utah: White R, Matsunami N, Gerken S, Melis R, Albertsen H, Pîaetke R, Odelberg S; Yale University: Ward D; Centre d'Etude du Polymorphisme Humain (CEPH-) Dausset J, Cohen D, Cann H (1994): A comprehensive Human linkage map with centomorgan density. Science 265:2049-2054.
9. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignai A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996): A comprehensive genetic map of me human genome based on 5,284 microsatellites Nature 380:152-154.
10. Eisenstaedt ,IS (1913): The cases of familial dystrophies of hair and nails. J Am Med Assoc 60:27-29.
11. Escobar V, Goldblatt LI. Bixjer D, Weaver D ; 1983): Clouston syndrome an ultrastructural study. Cîin Genet 24:140-146.
12. Gold RJM, Scriver CR (1972): Properties of hair keratin in an autosomal dominant From of ectodermal dysplasia. Arn J Hum Genet 24:549-561.
13. Guilford P, Arab SB, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C (1994): A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet 6:24-28.
14. Guilford P, Dode C, Crozet F, Blanchard S, Chaib H, Levilliers J, LeviAcobas F, Well D, Weissenbach J, Cohen D, Le Pasîier D, Kaplan J-C, Petit C (1995): A YAC contig and an EST map in the pericentromeric region of chromosome 13 .surrounding the loci for neurosensory non-syndromic deafness (DFNB1 and DFXA3) and limb-girdle muscular dystrophy type 2C (LGMD2C). Genomics 29:163-169.
15. Gyapay G Morissette J, Vignai A, Dib C, Fizames C, Millasseau P, Marc S,
16. Bernardi G, Lamrop M, Weissenbach J. (1994): The 1993-94 Généthon human genetic linkage map. Nat Genet 7:246-249.
17. Joachim H (1936): Hereditary dystrophy of the hair and nails in six generations. Ann Int Mod 10:400-402.
18. Kibar Z, Der Kaloustian VM, Brais B, Ham V, Fraser FC, Rouleau GA (1996': The gene responsible for Clouston hidrotic ectodermal aysplasia maps to the pericentrcmeric region of chromosome 13q. Hum Moi Genet 5:543-547.
19. Lathrop GM, Lalouel JM, Julier C, Ott J (1984): Strategies for muitilocus linkage analysis in humans. Proc Nat Acaû Sei L'SA 81:3443-3446.
20. Mattel M-G, Penault-Llorca F, Coulier F, Birnbaums D (1995): The human FGF9 gene maps to chromosomal region 13q11-ql2. Genomics 29:811812.
21. McNaughton PZ, Pierson L, Rodman G (1976): Hidrotic ectodermal dysplasia in a black mother and daughter. Arch Dermatol 112:1448-1450.
22. Miyamoto M, Naruo K-I, Scko C, Matsumoto S, Kondo T, Kurokawa T (1993): Molecular cloning of a novel cytokine cDNA encoding the ninth member of the fibrobiast growth factor family, which has a unique secretion property. Mol Cell Biol 13:4251-4259.
23. Nicoile G, Hallipre A (1895): Maladie familiale charactérisée par des altérations des cheveux et des ongles. Ann Derrnat Syph 6:675-805.
24. NIH/CEPH collaborative mapping group (1992): A comprehensive genetic linkage map of the human genome. Science 258:67-86.
25. Patel RA, Bixler D, Norins AL (1991): Clouston syndrome: a rare autosomal dominant trait with plamoplanter hyperkeratosis and alopecia. J Craniofac Gen Dev Biol 11:176-179.
26. Pierard GE, Van Neste D, Letot B (1979): Hidrotic ectodermal dysplasia. Dermatologica 158:168-174.
27. Rajagopalan K, Hai Tai C (1977): Hidrotic ectodermal dysplasia. Arch Dermatol 113:481-485.
28. Turnpenny PD, De Suva DC, Gregory DW, Gray ES, Dean JCS (1995): A four generation hidrotic ectodermal dysplasia family: An alielic variant of Clouston syndrome? Clin Dytmorphol 4:324-333.
29. Williams M, Fraser FC (1967): Hidrotic ectodermal dysplasia: Clouston's family revisited. Canad Mcd Ass J 96:36-38.