Compound Heterozygosity for Nonsense and Missense Mutations in the LAMB3 Gene in Nonlethal Junctional Epidermolysis Bullosa

Journal of Investigative Dermatology

Volumn 106, Issue 4, 1996, Pages 775-777

  Christiano, Angela M ^d   Pulkkinen, Leena ^b   Eady, Robin A J ^a   Uitto, Jouni ^c  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b KUOPIO UNIVERSITY HOSPITAL   (Finland)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d NONE

Author keywords

Anchoring filaments; Laminin 5

Indexed keywords

LAMININ;

AGED; ALLELE; ARTICLE; CASE REPORT; EPIDERMOLYSIS BULLOSA; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; INFANT; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; CONTROLLED STUDY; HETEROZYGOSITY; HUMAN CELL; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

AGED; ALLELES; BASE SEQUENCE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; HETEROZYGOTE; HUMANS; INFANT; LAMININ; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 0029670320     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12346246     Document Type: Article

References (17)

1. Aberdam D, Galliano M-F, Vailly J, Pulkkinen L, Bonifas J, Christiano AM, Tryggvason K, Uitto J, Epstein EH Jr, Ortonne J-P, Meneguzzi G: Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (laminin-5). Nat Genet 6:299-304, 1994
2. Cheng J, Fogel-Petrovic M, Maquat LE: Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA. Mol Cell Biol 10:5215-5225, 1990
3. Dietz HC, Pyeritz RJE, Puffenberger EG, Kendzior RJ, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR: Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest 89:1674-1680, 1992
4. Ganguly A, Rock MJ, Prockop DJ: Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325-10329, 1993
5. Kennedy AR, Heagerty AHM, Ortonne J-P, Hsi B-L, Yeh C-JG, Eady RAJ: Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa. Br J Dermatol 113:651-659, 1985
6. Kivirikko S, McGrath JA, Baudoin C, Aberdam D, Ciatti S, Dunnill MGS, McMillan JR, Eady RAJ, Ortonne J-P, Meneguzzi G, Uitto J, Christiano AM: A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet 4:959-962, 1995
7. Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM: Mutational hotspots in the LAMB3 gene in Herlitz junctional epidermolysis bullosa. Hum Mol Genet (in press) 1996
8. McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RAJ, Uitto J: Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 11:83-86, 1995a
9. McGrath JA, McMillan JR, Dunnill MGS, Pulkkinen L, Christiano AM, Rodeck CH, Eady RAJ, Uitto J: Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family. Prenat Diagn 15:647-654, 1995b
10. McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RAJ, Uitto J: Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 104:467-474, 1995c
11. Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J: Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin-5 in the junctional forms of epidermolysis bullosa. Nat Genet 6:293-298, 1994a
12. Pulkkinen L, Christiano AM, Gerecke DR, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J: A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24:357-360, 1994b
13. Pulkkinen L, McGrath JA, Christiano AM, Uitto J: Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3). Hum Mutat 6:77-84, 1995
14. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning. A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, 1989
15. Schofield OMV, Fine J-D, Verrando P, Heagerty AHM, Ortonne J-P, Eady RAJ: GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicenter study. J Am Acad Dermatol 23:1078-1983, 1990
16. Tidman MJ, Eady RAJ: Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol 86:51-56, 1986
17. Urlaub G, Mitchell PJ, Ciudad CJ, Chasin LA: Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol Cell Biol 9:2868-2880, 1989