A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing

Experimental Dermatology

Volumn 20, Issue 1, 2011, Pages 74-76

  Natsuga, Ken ^a   Nishie, Wataru ^a   Shinkuma, Satoru ^a   Nakamura, Hideki ^a   Arita, Ken ^a   Yoneda, Kozo ^b   Kusaka, Takashi ^b   Yanagihara, Toshihiro ^b   Kosaki, Rika ^c   Sago, Haruhiko ^c   Akiyama, Masashi ^a   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KAGAWA UNIVERSITY   (Japan)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Basement membrane zone; Haplotype analysis; Single nucleotide polymorphism

Indexed keywords

BETA4 INTEGRIN; GENOMIC DNA;

ALLELE; ATRESIA; CASE REPORT; CHINESE; DISSEMINATED INTRAVASCULAR CLOTTING; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA; FEMALE; FOUNDER EFFECT; GENE DELETION; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; JAPANESE; LETTER; MALE; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PARENT; PREGNANCY; PRENATAL DIAGNOSIS; PYLORIC ATRESIA; RESTRICTION MAPPING; SINGLE NUCLEOTIDE POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; INTEGRIN BETA4; JAPAN; MALE; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE DELETION;

EID: 78650216634     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2010.01177.x     Document Type: Letter

References (18)

1. Castiglia D, Zambruno G. Dermatol Clin 2010: 28: 17-22.
2. Bowden P E, Knight A G, Liovic M. Exp Dermatol 2009: 18: 650-652.
3. Dang N, Murrell D F. Exp Dermatol 2008: 17: 553-568.
4. Fine J D, Eady R A, Bauer E A et al. J Am Acad Dermatol 2008: 58: 931-950.
5. Chung H J, Uitto J. Dermatol Clin 2010: 28: 43-54.
6. Ruzzi L, Gagnoux-Palacios L, Pinola M et al. J Clin Invest 1997: 99: 2826-2831.
7. Vidal F, Aberdam D, Miquel C et al. Nat Genet 1995: 10: 229-234.
8. Dang N, Klingberg S, Rubin A I et al. Acta Derm Venereol 2008: 88: 438-448.
9. Varki R, Sadowski S, Pfendner E et al. J Med Genet 2006: 43: 641-652.
10. Abe M, Sawamura D, Goto M et al. J Dermatol Sci 2007: 47: 165-167.
11. Natsuga K, Nishie W, Arita K et al. J Invest Dermatol, E-pub ahead of print July 1, 2010.
12. Takizawa Y, Shimizu H, Nishikawa T et al. J Invest Dermatol 1997: 108: 943-946.
13. Nakano A, Pulkkinen L, Murrell D et al. Pediatr Res 2001: 49: 618-626.
14. Barrett J C, Fry B, Maller J et al. Bioinformatics 2005: 21: 263-265.
15. Shimizu H. Prenat Diagn 2006: 26: 1260-1261.
16. Ashton G H, Sorelli P, Mellerio J E et al. Br J Dermatol 2001: 144: 408-414.
17. Gache Y, Romero-Graillet C, Spadafora A et al. J Invest Dermatol 1998: 111: 914-916.
18. Pfendner E G, Nakano A, Pulkkinen L et al. Prenat Diagn 2003: 23: 447-456.