Toenail Dystrophy With COL7A1 Glycine Substitution Mutations Segregates as an Autosomal Dominant Trait in 2 Families With Dystrophic Epidermolysis Bullosa

Sato‐Matsumura, Kazuko C.; Yasukawa, Kana; Tomita, Yoshihiko; Shimizu, Hiroshi

doi:10.1001/archderm.138.2.269

Cited by 30 publications

(19 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…According to the current classification of inherited EB, the nails-only phenotype is considered a very rare autosomal dominant DEB variant probably overlooked because of negligible clinical implications [1,15,16,17,18]. Indeed, patients with this condition have been frequently disclosed as heterozygous carriers for a dominant mutation in pedigrees where other members with overt skin blistering resulted from compound heterozygous dominant and recessive glycine substitution mutations [19,20].…”

Section: Discussionmentioning

confidence: 99%

<i>COL7A1</i> Recessive Mutations in Two Siblings with Distinct Subtypes of Dystrophic Epidermolysis Bullosa: Pruriginosa versus Nails Only

et al. 2010

View full text Add to dashboard Cite

Dystrophic epidermolysis bullosa (DEB) is a rare, clinically heterogeneous, blistering genodermatosis inherited as either autosomal dominant or recessive trait. All DEB forms are caused by mutations in the COL7A1 gene, which encodes for type VII collagen, the major component of the anchoring fibrils ensuring epithelial-mesenchymal adhesion. Major determinants of clinical heterogeneity in DEB are COL7A1 mutation types and their consequences at mRNA and protein levels; nevertheless, siblings with the same genetic alterations can manifest highly variable clinical signs. Here, we report novel compound heterozygous recessive COL7A1 missense mutations in 2 siblings presenting different DEB clinical subtypes. Our findings document the rare occurrence of recessive inheritance for the nails only DEB variant and emphasize the role of acquired phenotype-modifying factors in DEB pruriginosa pathogenesis.

show abstract

Section: Discussionmentioning

confidence: 99%

<i>COL7A1</i> Recessive Mutations in Two Siblings with Distinct Subtypes of Dystrophic Epidermolysis Bullosa: Pruriginosa versus Nails Only

et al. 2010

View full text Add to dashboard Cite

show abstract

“…4). Furthermore, recent reports have shown presence of some glycine substitutions G1595R, G1776A, G1815R, G2251E, and G2287R can cause dominantly inherited nail dystrophy [6,7,19,20].…”

Section: Discussionmentioning

confidence: 99%

“…We found no significant nucleotide change except several polymorphisms that did not lead to the substitution of any amino acids. COL7A1 mutations are the cause of rare instances of familial nail dystrophy without any history of blistering as the main clinical feature [6,7,19,20]. It is generally thought that, if a dominant COL7A1 glycine substitution mutation is not at a critical sequence, a minimal phenotypical severity, such as nail dystrophy, may arise in the DEB patient [19].…”

Section: Discussionmentioning

confidence: 99%

The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa

Nakamura¹,

Sawamura²,

Goto³

et al. 2004

Journal of Dermatological Science

View full text Add to dashboard Cite

“…By contrast, the mutation p.G1815R (rs121912841) was previously detected in DEB patients with toenail dystrophy (Sato-Matsumura et al, 2002). Similarly, all of the affected individuals in the 3-generation family with DEB-Pr showed typical manifestations of DEB-Pr and toenail dystrophy.…”

Section: Discussionmentioning

confidence: 80%

Case Report Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa

Zhu

Zhou

et al. 2014

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Dystrophic epidermolysis bullosa pruriginosa (DEBPr) is a rare subtype of dystrophic epidermolysis bullosa (DEB). This disease is characterized by severe itching, lichenoid nodules or prurigolike lesions, and linear scarring with a predilection for the extensor limbs. Pathogenic mutations in the type VII collagen alpha 1 (COL7A1) gene have been identified. We analyzed mutations in the COL7A1 gene in a Chinese family including 5 affected individuals with typical DEBPr and in a patient previously reported with sporadic DEB-Pr. The entire coding region and exon-intron boundaries of COL7A1 were detected by polymerase chain reaction and direct sequencing. We identified one novel heterozygote mutation (c.6842G>T, p.G2281V) and a second mutation (c.5443G>A, p.G1815R) reported previously in patients with DEB. Our findings contribute to the COL7A1 mutation database and further reveal the genetic and phenotypic heterogeneity of DEB-Pr.

show abstract

Toenail Dystrophy With COL7A1 Glycine Substitution Mutations Segregates as an Autosomal Dominant Trait in 2 Families With Dystrophic Epidermolysis Bullosa

Cited by 30 publications

References 4 publications

<i>COL7A1</i> Recessive Mutations in Two Siblings with Distinct Subtypes of Dystrophic Epidermolysis Bullosa: Pruriginosa versus Nails Only

<i>COL7A1</i> Recessive Mutations in Two Siblings with Distinct Subtypes of Dystrophic Epidermolysis Bullosa: Pruriginosa versus Nails Only

The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa

Case Report Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa

Contact Info

Product

Resources

About