Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

Castellà, María; Pujol, Roser; Callén, Elsa; Trujillo, Juan Pablo Fernández; Casado, José Antonio; Gille, Johan J. P.; Lach, Francis P.; Auerbach, Arleen D.; Schindler, Detlev; Benı́tez, Javier; Porto, Beatriz; Ferró, Teresa; Muñoz, Arturo; Sevilla, Julián; Madero, Luís; Cela, Elena; Beléndez, Cristina; Heredia, Cristina Díaz de; Olivé, T; Toledo, José Sánchez de; Badell, Isabel; Torrent, Montserrat; Estella, Jesús; Dasí, Ángeles; Rodríguez-Villa, Antonia; Gómez, Pedro; Barbot, José; Tapia, Maria C.; Molinés, Antonio; Figuera, Á; Bueren, Juan A.; Surrallés, Jordi

doi:10.1182/blood-2010-08-299917

Cited by 115 publications

(144 citation statements)

References 39 publications

(41 reference statements)

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“…In the remaining patients, one (P13, P19, and P20) or two (P25) pathogenetic alleles remained uncharacterized, suggesting that mutations outside of the target design or affecting novel FA genes are involved (Castella et al. 2011). …”

Section: Resultsmentioning

confidence: 99%

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Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology

Nicchia

Greco

Rocco

et al. 2015

Molec Gen & Gen Med

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Fanconi anemia (FA) is a rare bone marrow failure disorder characterized by clinical and genetic heterogeneity with at least 17 genes involved, which make molecular diagnosis complex and time‐consuming. Since next‐generation sequencing technologies could greatly improve the genetic testing in FA, we sequenced DNA samples with known and unknown mutant alleles using the Ion PGM ™ system (IPGM). The molecular target of 74.2 kb in size covered 96% of the FA‐coding exons and their flanking regions. Quality control testing revealed high coverage. Comparing the IPGM and Sanger sequencing output of FANCA,FANCC, and FANCG we found no false‐positive and a few false‐negative variants, which led to high sensitivity (95.58%) and specificity (100%) at least for these two most frequently mutated genes. The analysis also identified novel mutant alleles, including those in rare complementation groups FANCF and FANCL. Moreover, quantitative evaluation allowed us to characterize large intragenic deletions of FANCA and FANCD2, suggesting that IPGM is suitable for identification of not only point mutations but also copy number variations.

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Section: Resultsmentioning

confidence: 99%

“…In recent years, various strategies, mainly based on extensive screening of the FA genes or complementation or protein analyses, have been developed to optimize mutation detection rate (Castella et al. 2011; De Rocco et al. 2014).…”

Section: Discussionmentioning

confidence: 99%

Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology

Nicchia

Greco

Rocco

et al. 2015

Molec Gen & Gen Med

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show abstract

“…Unfortunately, advanced maternal age is unavoidable in most cases of FA, given that a diagnosis of FA is rare in newborns. In fact, the mean age at onset of hematological disease in FA is 7 years, 5,7 and the majority of patients are diagnosed months to years after onset.…”

Section: Discussionmentioning

confidence: 99%

“…As co-coordinator of the Spanish FA Research Network and reference laboratory in the genetic diagnosis of Spanish patients with FA, 5 we are in contact with all Spanish families with FA willing to undergo embryo selection. The aim of this study is to provide families with FA and their clinicians and genetic counselors with an estimate of the success rate of this procedure from the family's perspective.…”

Section: Introductionmentioning

confidence: 99%

Savior siblings and Fanconi anemia: analysis of success rates from the family’s perspective

Trujillo

Surrallés

2015

Genetics in Medicine

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“…Этнически закрепленные мутации, в основе распространения которых лежит «эффект основателя» -потеря генетической вариабельности в результате формирования популяции небольшим числом предков, свойственны относительно неболь-шим популяциям. Такие мутации описаны у евреев ашкенази, испанских цыган, голландцев, выходцев с Канарских островов, а также у жителей Южной Аф-рики и Кореи [10][11][12][13][14]. В некоторых из этих популяций частота носительства этнически закрепленных мута-ций довольно высока и оценена приблизительно как 1:100 [12][13][14].…”

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