The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.

doi:10.1002/ajmg.a.70171

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Article

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.

American journal of medical genetics. Part A - 1 Oct 2026

Cenciarelli Sabina, Marchetti Giulia Bruna, Iascone Maria, Patricelli Maria Grazia, Giangiobbe Sara, Pozzobon Gabriella Cinzia, Savini Miriam Nella, Giglio Fabio, Aiuti Alessandro, Carrera Paola, Ferrua Francesca, Peron Angela

Abstract excerpt

Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long-term follow-up is available. Here we present two young related adults born to consanguineous parents, in whom we identified the homozygous p.(Arg215Ter) variant in XRCC2. Both...

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Topics

Humans
Fanconi Anemia
Homozygote
DNA-Binding Proteins
Male

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Phenotype

Mutation

Microcephaly

Young Adult

Intellectual Disability

Pedigree

Adult

Child

Genetic Predisposition to Disease

Source

Open in PubMed

Identifiers

PMID: 42071175
DOI: 10.1002/ajmg.a.70171

Genes

XRCC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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