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Complete Maternal Isodisomy of Chromosome 3 in a Child with Recessive Dystrophic Epidermolysis Bullosa but No Other Phenotypic Abnormalities  Hiva Fassihi,

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Presentation on theme: "Complete Maternal Isodisomy of Chromosome 3 in a Child with Recessive Dystrophic Epidermolysis Bullosa but No Other Phenotypic Abnormalities  Hiva Fassihi,"— Presentation transcript:

1 Complete Maternal Isodisomy of Chromosome 3 in a Child with Recessive Dystrophic Epidermolysis Bullosa but No Other Phenotypic Abnormalities  Hiva Fassihi, Liu Lu, Vesarat Wessagowit, Linda C. Ozoemena, Catherine A. Jones, Patricia J.C. Dopping-Hepenstal, Lesley Foster, David J. Atherton, Jemima E. Mellerio, John A. McGrath  Journal of Investigative Dermatology  Volume 126, Issue 9, Pages (September 2006) DOI: /sj.jid Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Clinical examination and skin immunohistochemistry indicate that this child has Hallopeau–Siemens recessive dystrophic epidermolysis bullosa. (a) Skin erosions and wound exudate/crust on the dorsum of the left hand and fingers; (b) extensive skin loss and erosions on the lower legs and feet; (c) type IV collagen immunostaining maps to the roof of a blister in the child's skin (blister cavity indicated by asterisk; bar=50μm); (d) there is a complete absence of type VII collagen labeling in the child's skin (blister cavity indicated by asterisk; bar=50μm); and (e) in contrast, type VII collagen immunolabeling in normal control skin shows bright linear fluorescence at the dermal–epidermal junction (bar=50μm). Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Nucleotide sequencing reveals a homozygous frameshift in COL7A1 in the affected child. Mother is a heterozygous carrier but father is not. (a) Within exon 3 in the affected child's DNA, there is a homozygous single nucleotide insertion, 345insG (arrow): this frameshift results in a premature termination codon 36-bp downstream; (b) sequencing of the mother's DNA reveals that she is a heterozygous carrier of 345insG; and (c) by contrast, the father's DNA shows wild-type exon 3 sequence only. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

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