Cytogenetic mapping of a novel locus for type II Waardenburg syndrome

Human Genetics

Volumn 110, Issue 1, 2002, Pages 64-67

  Selicorni, Angelo ^b,c   Guerneri, Silvana ^d   Ratti, Antonia ^b   Pizzuti, Antonio ^a,e,f  

^a Mendel Institute   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c SCIENTIFIC INSTITUTE   (Italy)

^d PARKINSON INSTITUTE   (Italy)

^e CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN;

ARTICLE; CHILD; CHROMOSOME 3P; CHROMOSOME 4P; CHROMOSOME 8; CHROMOSOME 8P; CHROMOSOME PAINTING; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINICAL FEATURE; CLONE; CONTIG MAPPING; CYTOGENETICS; FAMILY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HUMAN; ITALY; MALE; MICROPHTHALMIA; PREGNANCY DIABETES MELLITUS; PRIORITY JOURNAL; WAARDENBURG SYNDROME; WAARDENBURG SYNDROME TYPE 2; WOLF HIRSCHHORN SYNDROME; YEAST ARTIFICIAL CHROMOSOME;

CELL LINE, TRANSFORMED; CHROMOSOME MAPPING; DNA; DNA-BINDING PROTEINS; FEMALE; HERPESVIRUS 4, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MUTATION; PEDIGREE; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 0036461068     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0643-9     Document Type: Article

References (12)

1. Baldwin CT, Hoth CF, Amos JA, Da-Silva EO, Milunsky A (1992) An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355:637-638
2. Chakravarti A (1996) Endothelin receptor-mediated signaling in Hirschprung disease. Hum Mol Genet 5:303-307
3. Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, Ravenswaaij-Arts van C, et al. (1996) A homozigous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschprung phenotype (Shah-Waardenburg syndrome). Nat Genet 12:445-447
4. Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT (1993) Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome Type 1 (WS-I). Am J Hum Genet 52:455-462
5. Lalwani AK, Baldwin CT, Morell R, Friedman TB, San Agustin TB, Milunsky A, Adair R, et al. (1994) A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1. Am J Hum Genet 55 (Suppl):A14
6. Liu XZ, Newton VE, Read AP (1995) Waardenburg syndrome type 2: Phenotypic findings and diagnostic criteria. Am J Hum Genet 55:95-100
7. Nobukuni Y, Watanabe A, Takeda K, Sharka H, Tachibana M (1996) Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. Am J Hum Genet 59:76-83
8. Pingault V, Bondurand N, Khulbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth B, et al. (1998) SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18:171-173
9. Read AP, Newton VE (1997) Waardenburg syndrome. J Med Genet 34:656-665
10. Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T (1992) Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355:635-636
11. Tassabehji M, Newton VE, Read AP (1994) Waardenburg syndrome type 2 caused by mutations in the human microphtalmia (MITF) gene. Nat Genet 8:251-255
12. Waardenburg PJ (1951) A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 3:195-253