PMID- 10232406
OWN - NLM
STAT- MEDLINE
DCOM- 19990622
LR  - 20191103
IS  - 0906-6705 (Print)
IS  - 0906-6705 (Linking)
VI  - 8
IP  - 2
DP  - 1999 Apr
TI  - Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new
      dominant or mitis recessive mutation?
PG  - 140-2
AB  - Dystrophic forms of epidermolysis bullosa (DEB), characterized by mutations in
      the type VII collagen gene (COL7A1), are inherited either in an autosomal
      dominant or autosomal recessive fashion, and sporadic, de novo cases have also
      been reported. Clinically, the dominant forms (DDEB) can be indistinguishable
      from the mild, mitis forms of recessively inherited DEB (M-RDEB). This situation 
      poses a dilemma in case of families with 1 mildly affected individual and
      clinically normal parents: Is it a new dominant or mitis recessive DEB? In this
      study we review 2 cases with mild DEB, the parents being clinically normal. One
      of the cases was shown to be a compound heterozygote for 2 silent missense
      mutations (R2063W/G2366S), thus being diagnosed as M-RDEB. The second case had a 
      single glycine substitution mutation (G2079E) in COL7A1 and had therefore DDEB.
      These findings have implications for the genetic counseling of these families
      concerning the risk of recurrence of the disease in subsequent pregnancies in the
      present and future generations.
FAU - Hashimoto, I
AU  - Hashimoto I
AD  - Department of Dermatology, Hirosaki University, Japan.
FAU - Kon, A
AU  - Kon A
FAU - Tamai, K
AU  - Tamai K
FAU - Uitto, J
AU  - Uitto J
LA  - eng
GR  - P01-AR38923/AR/NIAMS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Denmark
TA  - Exp Dermatol
JT  - Experimental dermatology
JID - 9301549
RN  - 9007-34-5 (Collagen)
RN  - TE7660XO1C (Glycine)
SB  - IM
CIN - Exp Dermatol. 1999 Apr;8(2):92-5. PMID: 10232398
MH  - Amino Acid Substitution
MH  - Child
MH  - Collagen/*genetics
MH  - Epidermolysis Bullosa Dystrophica/classification/*diagnosis/*genetics
MH  - Female
MH  - *Genes, Dominant
MH  - *Genes, Recessive
MH  - Genetic Carrier Screening
MH  - Glycine
MH  - Humans
MH  - Male
MH  - *Mutation, Missense
MH  - Pedigree
EDAT- 1999/05/08 00:00
MHDA- 1999/05/08 00:01
CRDT- 1999/05/08 00:00
PHST- 1999/05/08 00:00 [pubmed]
PHST- 1999/05/08 00:01 [medline]
PHST- 1999/05/08 00:00 [entrez]
AID - 10.1111/j.1600-0625.1999.tb00362.x [doi]
PST - ppublish
SO  - Exp Dermatol. 1999 Apr;8(2):140-2. doi: 10.1111/j.1600-0625.1999.tb00362.x.