Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia- syndactyly syndrome (EDSS1)

Journal of Human Genetics

Volumn 56, Issue 5, 2011, Pages 352-357

  Jelani, Musharraf ^a   Chishti, Muhammad Salman ^a   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

ectodermal dysplasia syndactyly syndrome (EDSS1); missense mutation; PVRL4 gene

Indexed keywords

FIBROBLAST GROWTH FACTOR 10; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3; NECTIN 4; PROTEIN; TRANSCRIPTION FACTOR IIH; UNCLASSIFIED DRUG; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

ADOLESCENT; ARTICLE; CHROMOSOME 1Q; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; ECTODERMAL DYSPLASIA; ECTODERMAL DYSPLASIA SYNDACTYLY SYNDROME; GENE LOCUS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN GENOME; MICROSATELLITE MARKER; MISSENSE MUTATION; PAKISTAN;

BASE SEQUENCE; CELL ADHESION MOLECULES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CONSANGUINITY; ECTODERMAL DYSPLASIA; FEMALE; HAPLOTYPES; HUMANS; MALE; MUTATION; PEDIGREE; SYNDACTYLY; SYNDROME;

EID: 79957598134     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.18     Document Type: Article

References (12)

1. Tariq, M., Khan, M. N. & Ahmad, W. Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3. Hum. Genet. 125, 421-429 (2009).
2. Boudghene-Stambouli, O. & Merad-Boudia, A. Association of ectodermal dysplasia and syndactylia. Ann. Dermatol. Venereol. 118, 107-110 (1991).
3. Freire-Maia, N. & Pinheiro, M. Ectodermal dysplasias: a clinical and genetic study. Alan. R. Liss. New York 172-173 (1984).
4. Brancati, F., Fortugno, P., Bottillo, I., Lopez, M., Josselin, E., Boudghene-Stambouli, O. et al. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am. J. Hum. Genet. 87, 265-273 (2010).
5. Sobel, E. & Lange, K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am. J. Hum. Genet. 58, 1323-1337 (1996).
6. Wigginton, J. E. & Abecasis, G. R. PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 21, 3445-3447 (2005).
7. Cottingham##Jr, R. W., Idury, R. M. & Schaffer, A. A. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53, 252-263 (1993).
8. Matise, T. C., Chen, F., Chen, W., De-La-Vega, F. M., Hansen, M., He, C. et al. A second-generation combined linkage physical map of the human genome. Genome Res. 17, 1783-1786 (2007).
9. Rozen, S. & Skaletsky, H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol. 132, 365-386 (2000).
10. Reymond, N., Fabre, S., Lecocq, E., Adelaide, J., Dubreuil, P. & Lopez, M. Nectin4/PRR4, a new Afadin-associated member of the nectin family that trans-interacts with nectin1/PRR1 through V domain interaction. J. Biol. Chem. 276, 43205-43215 (2001).
11. Perez-Moreno, M., Jamora, C. & Fuchs, E. Sticky business: orchestrating cellular signals at adherens junctions. Cell 112, 535-548 (2003).
12. Suzuki, K., Hu, D., Bustos, T., Zlotogora, J., Richieri-Costa, A., Helms, J. A. et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat. Genet. 25, 427-430 (2000).