Epidermolytic ichthyosis due to a de novo missense mutation c.1307T&gt; C; p.Leu436Pro in <i>KRT10</i>

Kuske, Marvin; Berndt, Katja; Meinel, Giada; Abraham, Susanne; Oji, Vinzenz; Reicherter, Kerstin; Hörtnagel, Konstanze; Beissert, Stefan; Bauer, Andrea

doi:10.1111/ddg.13720

Cited by 2 publications

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“…This mutation has been reported in only one patient who had a similar phenotype but with relatively limited skin lesions. 16 We assumed that p.Leu436Pro mutation may be related to a distinct phenotype of EI characterized by brown hyperkeratosis, without the presence of erythema or blisters.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis

Yang

et al. 2023

Pediatric Investigation

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ImportanceKeratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex.ObjectiveTo analyze the clinical manifestations and gene mutations in Chinese patients with KPI.MethodsClinical data were collected from 13 children diagnosed with KPI, and peripheral blood DNA samples were extracted from both the patients and their parents Next‐generation sequencing was performed using a congenital ichthyosis multi‐gene panel, and the selected variants in the patients and their parents were further validated using the Sanger sequencing method.ResultsGenetic analysis identified missense mutations in either KRT1 or KRT10 in ten patients exhibiting varying degrees of severity and distinct features of epidermolytic ichthyosis. A missense hotspot mutation in KRT2 was identified in one patient with superficial epidermolytic ichthyosis. Additionally, two truncation mutations in KRT10 were detected, leading to the development of generalized ichthyosiform erythroderma. Ear malformation and ectropion at birth, scalp involvement, and palmoplantar hyperkeratosis were observed as early signs of ichthyosis with confetti.InterpretationWe analyzed the genotype‐phenotype correlations in KPI, revealing that the types and locations of different mutations are associated with distinct phenotypic characteristics. Oral acitretin could be considered a treatment option for severe patients at an appropriate dosage and timing.

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Section: Discussionmentioning

confidence: 99%

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis

Yang

et al. 2023

Pediatric Investigation

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“…Our patient shows a heterozygotic RAG2 aberration inherited from his healthy mother. Some data suggest that mutations on at least one RAG allele may enable generation of T lymphocytes [3] and that environmental and epigenetic factors can contribute to the phenotype of different patients with the same mutation [9][10][11][12][13][14].…”

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confidence: 99%

A heterozygous mutation in the RAG2 gene with cutaneous and systemic manifestations partially resembling Omenn syndrome

Estébanez

Verdú‐Amorós

Silva

et al. 2021

J Deutsche Derma Gesell

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Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10

Cited by 2 publications

References 0 publications

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis

A heterozygous mutation in the RAG2 gene with cutaneous and systemic manifestations partially resembling Omenn syndrome

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