A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy

Archives of Dermatological Research

Volumn 302, Issue 9, 2010, Pages 701-703

  Kamran Ul Hassan Naqvi, Syed ^a   Azeem, Zahid ^a   Ali, Ghazanfar ^a   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

CDH3 gene; HJMD; Splice site mutation

Indexed keywords

P CADHERIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 16Q; CLINICAL ARTICLE; CONSANGUINITY; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HUMAN; HYPOTRICHOSIS WITH JUVENILE MACULAR DYSTROPHY; MICROSATELLITE MARKER; PAKISTAN; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPLICE SITE MUTATION;

CADHERINS; CHROMOSOMES, HUMAN, PAIR 16; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HAIR FOLLICLE; HUMANS; HYPOTRICHOSIS; INTRONS; MACULAR DEGENERATION; MALE; MUTATION; PAKISTAN; PEDIGREE; RNA SPLICE SITES;

EID: 77957865972     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00403-010-1035-6     Document Type: Article

References (10)

1. TJ Boggon J Murray S Chappuis-Flament E Wong BM Gumbiner L Shapiro 2002 C-cadherin ectodomain structure and implications for cell adhesion mechanisms Science 296 1308 1313 1:CAS:528:DC%2BD38Xjsl2qur4%3D 10.1126/science.1071559 11964443 (Pubitemid 34522784)
2. DK Carroll JS Carroll CO Leong F Cheng M Brown AA Mills JS Brugge LW Ellisen 2006 p63 regulates an adhesion programme and cell survival in epithelial cells Nat Cell Biol 8 551 561 1:CAS:528:DC%2BD28XltFWqs7k%3D 10.1038/ncb1420 16715076 (Pubitemid 43827347)
3. P Ianakiev MW Kilpatrick I Toudjarska D Basel P Beighton P Tsipouras 2000 Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27 Am J Hum Genet 67 59 66 1:CAS:528:DC%2BD3cXntVyksrs%3D 10.1086/302972 10839977 (Pubitemid 30481544)
4. M Indelman J Eason M Hummel O Loza M Suri MJ Leys M Bayne FL Schwartz E Sprecher 2007 Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy Clin Exp Dermatol 32 191 196 1:STN:280:DC%2BD2s7kt1Kntw%3D%3D 10.1111/j.1365-2230.2006.02335.x 17342797 (Pubitemid 46233027)
5. M Indelman CP Hamel R Bergman KK Nischal D Thompson MO Surget M Ramon H Ganthos B Miller G Richard R Lurie R Leibu I Russell-Eggitt E Sprecher 2003 Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy J Invest Dermatol 121 1217 1220 1:CAS:528:DC%2BD3sXpsVChsrk%3D 10.1046/j.1523-1747.2003.12550-1.x 14708629 (Pubitemid 37430996)
6. M Jelani MS Chishti W Ahmad 2009 A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy Clin Exp Dermatol 34 68 73 1:STN:280:DC%2BD1M%2FivFSruw%3D%3D 10.1111/j.1365-2230.2008.02933.x 19076794
7. KW Kjaer L Hansen GC Schwabe AP Marques-de-Faria H Eiberg S Mundlos N Tommerup T Rosenberg 2005 Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) J Med Genet 42 292 298 1:CAS:528:DC%2BD2MXktFGgtrk%3D 10.1136/jmg.2004.027821 15805154 (Pubitemid 40523950)
8. LE Maquat 1996 Defects in RNA splicing and the consequence of shortened translational reading frames Am J Hum Genet 59 279 286 1:CAS:528: DyaK28XkvFGrsr8%3D 8755945
9. Y Shimomura M Wajid L Shapiro AM Christiano 2008 P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle Development 135 743 753 1:CAS:528:DC%2BD1cXjsFyhtrY%3D 10.1242/dev.006718 18199584 (Pubitemid 351405027)
10. E Sprecher R Bergman G Richard R Lurie S Shalev D Petronius A Shalata Y Anbinder R Leibu I Perlman N Cohen R Szargel 2001 Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin Nat Genet 29 134 136 1:CAS:528:DC%2BD3MXnsFKgtLs%3D 10.1038/ng716 11544476 (Pubitemid 32952646)