Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia

Archives of Dermatological Research

Volumn 301, Issue 8, 2009, Pages 625-629

  Azeem, Zahid ^a,b   Naqvi, Syed Kamran Ul Hassan ^a   Ansar, Muhammad ^a   Wali, Abdul ^a   Naveed, Abdul Khaliq ^b   Ali, Ghazanfar ^a   Hassan, Muhammad Jawad ^a   Tariq, Muhammad ^a   Basit, Sulman ^a   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

^b NATIONAL UNIVERSITY OF SCIENCES AND TECHNOLOGY   (Pakistan)

Author keywords

EDA; EDAR; Hypohidrotic ectodermal dysplasia; Isolated hypodontia

Indexed keywords

CYSTEINE; ECTODYSPLASIN A; EDAR RECEPTOR; METHIONINE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; BLOOD SAMPLING; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME XQ; CLINICAL FEATURE; DNA SEQUENCE; FAMILY; FRAMESHIFT MUTATION; GENE DELETION; GENE MAPPING; GENE MUTATION; GENETIC IDENTIFICATION; HEREDITY; HUMAN; HYPERPIGMENTATION; HYPODONTIA; HYPOHIDROTIC ECTODERMAL DYSPLASIA; MISSENSE MUTATION; PAKISTAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; X CHROMOSOME LINKAGE;

ANODONTIA; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE; ECTODYSPLASINS; EDAR RECEPTOR; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; LOD SCORE; MALE; MICROSATELLITE REPEATS; MUTATION; RECURRENCE;

EID: 69049117161     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00403-009-0975-1     Document Type: Article

References (22)

1. G Ali MS Chishti SI Raza P John W Ahmad 2007 A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis Hum Genet 121 319 325
2. E Bal L Baala C Cluzeau F El-Kerch K Ouldim S Hadj-Rabia C Bodemer A Munnich G Courtois A Sefiani A Smahi 2007 Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus Hum Mutat 28 703 709
3. N Chassaing S Bourthoumieu M Cossee P Calvas MC Vincent 2006 Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia Hum Mutat 27 255 259
4. RW Cottingham Jr RM Idury AA Schaffer 1993 Faster sequential genetic linkage computations Am J Hum Genet 53 252 263
5. H Fan X Ye L Shi W Yin B Hua G Song B Shi Z Bian 2008 Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds Eur J Oral Sci 116 412 417
6. O Gaide P Schneider 2003 Permanent correction of an inherited ectodermal dysplasia with recombinant EDA Nat Med 9 614 618
7. Grieson G (1927) Linguistic survey of India. 1st edn, vol. 1, Part. 1, Motilal Banarsidas, Delhi, pp 121-126
8. DJ Headon SA Emmal BM Ferguson AS Tucker MJ Justice PT Sharp J Zonana PA Overbeek 2001 Gene defect in ectodermal dysplasia implicates a death domain adapter in development Nature 414 913 916
9. SG Hymowitz DM Compaan M Yan HJA Wallweber VM Dixit MA Starovasnik AM de Vos 2003 The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity Structure 11 1513 1520
10. J Kere AK Strivastava O Montonen J Zonana N Thomas B Ferguson F Munoz D Morgan A Clark P Baybayon EY Chen S Ezer U Saarialho-Kere A de la Chapelle D Schlessinger 1996 X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein Nat Genet 13 409 416
11. X Kong K Murphy T Raj C He PS White TC Matise 2004 A combined linkage physical map of the human genome Am J Hum Genet 75 1143 1148
12. J Laurikkala J Pispa HS Jung P Nieminen M Mikkola X Wang U Saarialho-kere J Galceran R Grosschedl I Thesleff 2002 Regulation of hair follicle development by the TNF signal ectodysplasin and its receptor Edar Development 129 2541 2553
13. LK Lind C Stecksén-Blicks K Lejon M Schmitt-Egenolf 2006 EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families BMC Med Genet 7 80
14. AW Monreal BM Ferguson DJ Headon SL Street PA Overbeek J Zonana 1999 Mutation in human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia Nat Genet 22 366 369
15. M Naeem D Muhammad W Ahmad 2005 Novel mutations in two EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia Br J Dermatol 153 46 50
16. M Pummila I Fliniaux R Jaatinen MJ James J Laurikkala P Scneider I Thesleff ML Mikkola 2007 Ectodysplasin has a dual role in ectodermal organogenesis: inhibition of Bmp activity and induction of Shh expression Development 134 117 125
17. AR RamaDevi EC Reddy S Ranjan MD Bashyam 2008 Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes Br J Dermatol 158 163 167
18. M Rasool J Schuster M Aslam M Tariq I Ahmad A Ali M Entesarian N Dahl SM Baig 2008 A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia J Hum Genet 53 10 894 898
19. R Tao B Jin SZ Guo W Qing GY Feng DG Brooks L Liu J Xu Taiwei Li Yujuan Yan L He 2006 A novel missense mutation of the EDA gene in a Mongolian family with congenital Hypodontia J Hum Genet 51 498 502
20. M Tariq N Wasif WA Ahmad 2007 A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia Br J Dermatol 157 207 209
21. P Tarpey TJ Pemberton DW Stockton P Das V Ninis S Edkins PA Futreal R Wooster S Kamath N Rabindra MR Stratton PI Patel 2007 A Novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia Am J Med Genet Part A 143A 390 394
22. G Urlaub PJ Mitchell CJ Ciudad LA Chasin 1989 Nonsense mutations in the dihydrofolate reductase gene affect RNA processing Mol Cell Biol 9 2868 2880