Ancestral founder mutation of the Nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in Southern Italy population

Annals of Human Genetics

Volumn 68, Issue 3, 2004, Pages 265-268

  Adriani, M ^a   Martinez Mir, A ^b   Fusco, F ^a   Busiello, R ^a   Frank, J ^c   Telese, S ^a   Matrecano, E ^a   Ursini, M V ^d   Christiano, A M ^b   Pignata, Claudio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c RWTH AACHEN UNIVERSITY   (Germany)

^d INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXN1; UNCLASSIFIED DRUG;

ALOPECIA; ARTICLE; CHROMOSOME 17; COMBINED IMMUNODEFICIENCY; DATA BASE; DISEASE ASSOCIATION; DNA FLANKING REGION; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; PEDIGREE; PHYLOGENY; PLESIOMORPHY; POPULATION GENETICS; PRIORITY JOURNAL;

ALOPECIA; CHROMOSOMES, HUMAN, PAIR 17; DNA-BINDING PROTEINS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; FOUNDER EFFECT; GENETICS, POPULATION; HETEROZYGOTE; HUMANS; ITALY; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; SEVERE COMBINED IMMUNODEFICIENCY; TRANSCRIPTION FACTORS;

EID: 4444270355     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1529-8817.2004.00091.x     Document Type: Article

References (11)

1. Festing, M. F. W., May, D., Connors, T A. et al. (1978) An athymic nude mutation in the rat. Nature 274, 365-366.
2. Fischer, A., Cavazzana-Calvo, M., De Saint Basile, G. et al. (1997) Naturally occurring primary deficiencies of the immune system. Annu Rev Immunol 15, 93-124.
3. Flanagan, S. P. (1966) 'Nude', a new hairless gene with pleiotropic effects in the mouse. Genet Res 8, 295-309.
4. Frank, J., Pignata, C., Panteleyev, A. A. et al. (1999) Exposing the human nude phenotype. Nature 398, 473-474.
5. Hofmann, M., Harris, M., Juriloff, D. et al. (1998) Spontaneous mutations in SELH/Bc mice due to insertions of early transposons: molecular characterization of null alleles at the nude and albino loci. Genomics 52, 107-109.
6. Huth, M., Schlake, T. & Boehm, T. (1997) Transposon-induced splicing defect in the rat nude gene. Immunogenetics 45, 282-283.
7. Kokron, C. M., Bonilla, F. A., Oettgen, H. C. et al. (1997) Searching for genes involved in the pathogenesis of primary immunodeficiency diseases: lessons from mouse knockouts. J Clin Immunol 17, 109-126.
8. Miller, S. A., Dykes, D. D. & Polesky, H. F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 16, 1215.
9. Nehls, M., Pfeifer, D., Schorpp, M. et al. (1994) New member of the winged-helix protein family disrupted in mouse and rat nude mutations. Nature 372, 103-107.
10. Pignata, C., Fiore, M., Guzzetta, V. et al. (1996) Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. Am J Med Genet 65, 167-170.
11. Segre, J. A., Nemhauser, J. L., Taylor, B. A. et al. (1995) Positional cloning of the nude locus: genetic, physical, and transcription maps of the region and mutations in the mouse and rat. Genomics 28, 549-559.