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Article

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.

BMC medical genetics - 11 Jan 2018

Popp Isabell, Punekar Maqsood, Telford Nick, Stivaros Stavros, Chandler Kate, Minnis Meenakshi, Castleton Anna, Higham Claire, Hopewell Louise, Gareth Evans D, Raams Anja, Theil Arjan F, Meyer Stefan, Schindler Detlev

Abstract excerpt

BACKGROUND: Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA interstrand crosslinks. CASE PRESENTATION: A fifty-one-year old female patient, initially diagnosed with FA in childhood on the basis of classic features and increased chromosomal breakage, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29325523
DOI: 10.1186/s12881-018-0520-1
PMCID: PMC5765604

Genes

ERCC4

Variants

Provenance

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Related research

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Research trail→

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Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.PMID 29325523Read ↗

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.Semantic proximity Read ↗

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.Semantic proximity Read ↗

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.Semantic proximity Read ↗

Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.Semantic proximity Read ↗

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.Semantic proximity Read ↗

Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.Semantic proximity Read ↗

Xeroderma pigmentosa: three new cases with an in depth review of the genetic and clinical characteristics of the disease.Semantic proximity Read ↗

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1Semantic proximity Read ↗

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).Semantic proximity Read ↗

Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.Semantic proximity Read ↗

A novel XPA splice-site mutation identified in a 4-year-old Filipino girl with xeroderma pigmentosum.Semantic proximity Read ↗

A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum.Semantic proximity Read ↗

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