TY - JOUR
T1 - Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation
AU - Schara, Ulrike
AU - Tücke, Jens
AU - Mortier, Wilhelm
AU - Nüßlein, Thomas
AU - Rouan, Fatima
AU - Pfendner, Ellen
AU - Zillikens, Detlef
AU - Bruckner-Tuderman, Leena
AU - Uitto, Jouni
AU - Wiche, Gerhard
AU - Schröder, Rolf
N1 - Funding Information:
Acknowledgements We thank Dr. C. Kubisch, Institute of Human Genetics, Bonn, for helpful discussions and Christa Knaus, Würzburg, for help with the immunofluorescence studies. This work was supported in part by a grant from German Ministry for Education and Research (BMBF) for the ‘‘Network for rare diseases: epidermolysis bullosa (grant Nr. 01GM0301, L. B-T.) and muscular dystrophies (grant Nr. 01GM0302, R.S.). The work on plectin mutation analysis was supported by the NIH/NIAMS grant P01-AR38923.
PY - 2004/4
Y1 - 2004/4
N2 - Epidermolysis bullosa simplex with muscular dystrophy (OMIM 226670) is an autosomal recessive disorder caused by mutations of the human plectin gene on chromosome 8q24. Here, we report a 3-year-old girl, offspring of a consanguineous Lebanese family, who presented with skin blistering and recurrent episodes of severe respiratory distress necessitating tracheotomy at the age of 2 years. Repeated examination did not provide any evidence of muscle involvement. Indirect immunofluorescence analysis of a diagnostic skin biopsy with four different domain specific plectin antibodies showed a complete absence of plectin staining. Mutation analysis revealed a novel homozygous single guanine insertion mutation (5588insG/5588insG) residing in the N-terminal part of exon 31 of the plectin gene. Conclusion: The complete lack of protein expression, which may be attributed to a nonsense-mediated plectin mRNA decay, is likely to cause muscular dystrophy and other multisystem involvement later in life.
AB - Epidermolysis bullosa simplex with muscular dystrophy (OMIM 226670) is an autosomal recessive disorder caused by mutations of the human plectin gene on chromosome 8q24. Here, we report a 3-year-old girl, offspring of a consanguineous Lebanese family, who presented with skin blistering and recurrent episodes of severe respiratory distress necessitating tracheotomy at the age of 2 years. Repeated examination did not provide any evidence of muscle involvement. Indirect immunofluorescence analysis of a diagnostic skin biopsy with four different domain specific plectin antibodies showed a complete absence of plectin staining. Mutation analysis revealed a novel homozygous single guanine insertion mutation (5588insG/5588insG) residing in the N-terminal part of exon 31 of the plectin gene. Conclusion: The complete lack of protein expression, which may be attributed to a nonsense-mediated plectin mRNA decay, is likely to cause muscular dystrophy and other multisystem involvement later in life.
UR - http://www.scopus.com/inward/record.url?scp=2442675181&partnerID=8YFLogxK
U2 - 10.1007/s00431-004-1410-4
DO - 10.1007/s00431-004-1410-4
M3 - Journal articles
C2 - 14963703
AN - SCOPUS:2442675181
SN - 0340-6199
VL - 163
SP - 218
EP - 222
JO - European Journal of Pediatrics
JF - European Journal of Pediatrics
IS - 4-5
ER -