Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in<i>KRT10</i>

Covaciu, Claudia; Castori, Marco; Luca, Naomi De; Ghirri, Paolo; Nannipieri, Andrea; Ragone, Gianluca; Zambruno, Giovanna; Castiglia, Daniele

doi:10.1111/j.1365-2133.2010.09665.x

Cited by 18 publications

(32 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In contrast to the previously described EI‐causing recessive mutations, which were all located within the gene region encoding the alpha‐helical rod domain, p.Tyr11Ter resides within a region encoding the head domain of K10 (Fig. c).…”

Section: Reportcontrasting

confidence: 65%

“…To date, only five recessive mutations have been shown to cause EI . Four of these were found to reside in close proximity in the 2B domain‐encoding part of the gene (Fig.…”

Section: Reportmentioning

confidence: 99%

“…To date, only five recessive KRT10 mutations have been shown to cause autosomal recessive EI, all of which have been found to lead to complete absence of the K10 protein . These mutations all reside within the gene region encoding the highly conserved alpha‐helical rod domain of K10.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location

et al. 2017

View full text Add to dashboard Cite

Epidermolytic ichthyosis (EI) is a rare skin disorder caused by mutations in the genes KRT1 and KRT10, and is usually inherited in an autosomal dominant fashion. Only five recessive mutations causing EI have been described, all of which are located in the central region of the KRT10 gene. In the current study, we aimed to identify the genetic defect underlying EI in a 12-year-old patient. Direct sequencing of the patient's genomic DNA revealed a novel homozygous nonsense mutation residing within the proximal part KRT10 first exon. The mutation was found to co-segregate with the disease phenotype in an autosomal recessive fashion. Using real-time quantitative PCR, we found an almost two-fold decrease in KRT10 expression in the patient's skin compared with the skin of healthy controls. Western blot analysis showed complete absence of keratin 10 protein in the patient's skin, suggesting early protein degradation.

show abstract

Section: Reportcontrasting

confidence: 65%

“…To date, only five recessive mutations have been shown to cause EI . Four of these were found to reside in close proximity in the 2B domain‐encoding part of the gene (Fig.…”

Section: Reportmentioning

confidence: 99%

See 1 more Smart Citation

Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location

et al. 2017

View full text Add to dashboard Cite

show abstract

“…[2][3][4] EI is caused by mutations in the genes encoding keratin 1 (K1), keratin 2 or keratin 10 (K10), expressed in suprabasal epidermal keratinocytes. [2][3][4] EI is caused by mutations in the genes encoding keratin 1 (K1), keratin 2 or keratin 10 (K10), expressed in suprabasal epidermal keratinocytes.…”

Section: Discussionmentioning

confidence: 99%

Immortalized keratinocytes derived from patients with epidermolytic ichthyosis reproduce the disease phenotype: a usefulin vitromodel for testing new treatments

Chamcheu

Pihl-Lundin

Mouyobo

et al. 2011

British Journal of Dermatology

View full text Add to dashboard Cite

show abstract

“…Even though EI is usually autosomal dominantly inherited, recently several reports showed that this disorder can as well be inherited in a recessive way by involving either a donor splice site, termination codon or nonsense mutations [65–67]. A recessive nonsense KRT10 mutation that leads to the loss of K10 expression has been identified in a consanguineous family with a severe EI phenotype, characterized by sparse keratin filaments with amorphous and homogenous-like keratin aggregates [40].…”

Section: Epidermolytic Ichthyosis (Ei)—disorders Of Krt1 and Krt10 Gementioning

confidence: 99%

Keratin gene mutations in disorders of human skin and its appendages

Chamcheu

Siddiqui

Syed

et al. 2011

Archives of Biochemistry and Biophysics

176

135

View full text Add to dashboard Cite

Keratins, the major structural protein of all epithelia, are a diverse group of cytoskeletal scaffolding proteins that form intermediate filament networks, providing structural support to keratinocytes that maintain the integrity of the skin. Expression of keratin genes is usually regulated by differentiation of the epidermal cells within the stratifying squamous epithelium. Amongst the 54 known functional keratin genes in humans, about 21 different genes including hair and hair follicle-specific keratins have been associated with diverse hereditary disorders. The exact phenotype of each disease mostly reflects the spatial level of expression and types of the mutated keratin genes, the positions of the mutations as well as their consequences at sub-cellular levels. The identification of specific mutations in keratin disorders is the basis of our understanding that lead to reclassification, improved diagnosis with prognostic implications, prenatal testing and genetic counseling in severe cutaneous keratin genodermatoses. A disturbance in cutaneous keratins as a result of mutation(s) in the gene(s) that encode keratin intermediate filaments (KIF) causes keratinocytes and cutaneous tissue fragility, accounting for a large number of genetic disorders in human skin and its appendages. These diseases are characterized by a loss of structural integrity in keratinocytes expressing mutated keratins in vivo, often manifested as keratinocytes fragility (cytolysis), intra-epidermal blistering, hyperkeratosis, and keratin filament aggregation in severely affected tissues. Examples include epidermolysis bullosa simplex (EBS), keratinopathic ichthyosis (KPI), pachyonychia congenital (PC), monilethrix, steatocystoma multiplex and ichthyosis bullosa of Siemens (IBS). These keratins also have been identified to have roles in cell growth, apoptosis, tissue polarity, wound healing and tissue remodeling.

show abstract

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation inKRT10

Cited by 18 publications

References 11 publications

Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location

Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location

Immortalized keratinocytes derived from patients with epidermolytic ichthyosis reproduce the disease phenotype: a usefulin vitromodel for testing new treatments

Keratin gene mutations in disorders of human skin and its appendages

Contact Info

Product

Resources

About