The emerging genetic and molecular basis of Fanconi anaemia

Joenje, Hans; Patel, Ketan

doi:10.1038/35076590

Cited by 529 publications

(401 citation statements)

References 109 publications

Supporting

Mentioning

393

Contrasting

Unclassified

Order By: Relevance

“…Radial abnormalities may be unilateral or bilateral, and even those who have bilateral abnormalities usually present with a certain asymmetry, with their limbs showing different anomalies (27) . Radial anomalies, along with hematologic dysfunctions, were frequent in both groups of our study (with and without FA), and this finding may be related to the fact that it represents the main reasons that lead to suspicion o FA (3,5,6,11).…”

Section: Discussionmentioning

confidence: 69%

See 1 more Smart Citation

Características clínicas de pacientes com anemia de Fanconi

Zen

Moraes

Rosa

et al. 2011

Rev. paul. pediatr.

View full text Add to dashboard Cite

OBJETIVO: Verificar as características clínicas de pacientes com anemia de Fanconi (AF) diagnosticados em um Serviço de Genética Clínica. MÉTODOS: O estudo incluiu todos os pacientes atendidos no Serviço de Genética Clínica da Universidade Federal de Ciências da Saúde de Porto Alegre e Complexo Hospitalar Santa Casa de Porto Alegre, entre 1975 e 2008, com suspeita clínica de AF submetidos ao estudo de quebras cromossômicas com o uso de diepoxi-butano (DEB) a partir do sangue periférico. Realizou-se uma análise retrospectiva das características clínicas dos pacientes, a partir de um levantamento sistemático dos seus prontuários médicos. RESULTADOS: A amostra foi composta de 17 pacientes, sendo que em sete o diagnóstico de AF foi confirmado. Os pacientes com AF caracterizaram-se por um fenótipo amplo, oscilando desde um quadro de pancitopenia sem dismorfias até a presença de múltiplas malformações sem alterações hematológicas. Certos achados, como face triangular, orelhas em abano e manchas café com leite foram frequentes e encontrados apenas nos indivíduos com AF. História de equimoses, hematomas, petéquias, infecções e linfadenopatias foi comum entre os indivíduos desse grupo. Por outro lado, alterações neurológicas foram observadas apenas em pacientes sem AF. Consanguinidade foi verificada em apenas um paciente, que apresentava AF. CONCLUSÕES: Apesar das limitações do estudo, os achados ilustram a grande variabilidade fenotípica observada na AF, o que torna seu diagnóstico clínico um desafio. No entanto, alguns achados específicos podem servir de pistas para sua detecção. A identificação precoce desses indivíduos é fundamental para o seu manejo adequado.

show abstract

Section: Discussionmentioning

confidence: 69%

“…This syndrome was first described in 1927 by Swiss pediatrician Guido Fanconi. The disease was characterized as a rare form of familial aplastic anemia affecting three siblings with short stature, hypogonadism, and skin disorders (2)(3)(4)(5)(6) .…”

Section: Introductionmentioning

confidence: 99%

Características clínicas de pacientes com anemia de Fanconi

Zen

Moraes

Rosa

et al. 2011

Rev. paul. pediatr.

View full text Add to dashboard Cite

show abstract

“…More than 70 years after its first description, the genetic and cellular defect in Fanconi's anaemia has become clearer and is currently the subject of much research (Joenje & Patel, 2001). With its name, the Fanconi anaemia pathway maintaining DNA integrity immortalizes one of the most important paediatricians.…”

Section: Fanconi Anaemiamentioning

confidence: 99%

Fanconi and Glanzmann: the men and their works

Stevens

Meyer

2002

Br J Haematol

View full text Add to dashboard Cite

“…[1][2][3] Fifteen genes, defining 15 complementation groups, have been shown to be involved in FA. 4 One of them, FANCD1, corresponds to the BRCA2 gene, one of the main genes involved in autosomal dominant predisposition to breast and ovarian cancers.…”

Section: Introductionmentioning

confidence: 99%

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

et al. 2013

View full text Add to dashboard Cite

Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without detectable mutations in genes involved in the Mendelian predisposition to CRCs. We unexpectedly identified, despite the absence of clinical cardinal features of FA, a biallelic mutation of the FANCD1/BRCA2 corresponding to a frameshift alteration (c.1845_1846delCT, p.Asn615Lysfs*6) and a missense mutation (c.7802A4G, p.Tyr2601Cys). The diagnosis of FA was confirmed by the chromosomal analysis of lymphocytes. Reverse transcriptase (RT)-PCR analysis revealed that the c.7802A4G BRCA2 variation was in fact a splicing mutation that creates an aberrant splicing donor site and results partly into an aberrant transcript encoding a truncated protein (p.Tyr2601Trpfs*46). The atypical FA phenotype observed within this family was probably explained by the residual amount of BRCA2 with the point mutation c.7802A4G in the patients harbouring the biallelic FANCD1/BRCA2 mutations. Although this report is based in a single family, it suggests that CRCs may be part of the tumour spectrum associated with FANCD1/BRCA2 biallelic mutations and that the presence of such mutations should be considered in families with CRCs, even in the absence of cardinal features of FA.

show abstract

The emerging genetic and molecular basis of Fanconi anaemia

Cited by 529 publications

References 109 publications

Características clínicas de pacientes com anemia de Fanconi

Características clínicas de pacientes com anemia de Fanconi

Fanconi and Glanzmann: the men and their works

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

Contact Info

Product

Resources

About