Article

Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG

2021-12-29

Abstract excerpt

Fanconi anemia (FA) is a rare genetic disorder caused by pathogenic variants (PV) in at least 22 genes, which cooperate in the FA/BRCA pathway to maintain genome stability. PV in FANCA, FANCC, and FANCG account for most cases (~90%). This study evaluated the chromosomal, molecular, and phenotypic findings of a novel founder FANCG PV, identified in three patients with FA from the Mixe community of Oaxaca, Mexico. A...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ce7f6930-fca7-5e52-a6d0-5d41aeb78525
DOI: 10.20944/preprints202112.0473.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCGDOI 10.20944/preprints202112.0473.v1Read

Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: Case report and literature review.Semantic proximity Read

In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis.Semantic proximity Read

Five Novel Deleterious Variants in FANCA, FANCF and FANCG Identified in Pakistani Fanconi Anemia Families Using Exome SequencingSemantic proximity Read

Fanconi Anemia in Mexican Patients: Molecular Spectrum and Clinical Manifestations in a Case Series.Semantic proximity Read

Founder Variants in the Mexican Population: A Systematic Review.Semantic proximity Read

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.Semantic proximity Read

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.Semantic proximity Read

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.Semantic proximity Read

Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia.Semantic proximity Read

Clinical and Genetic Spectrum of Fanconi Anaemia in Australia and New ZealandSemantic proximity Read

Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.Semantic proximity Read

Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.Semantic proximity Read