Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia

JACQUINET, Adeline; Brown, L.; Sawkins, J.; Liu, P.; Pugash, D.; Van Allen, M. I.; Patel, M. S.

doi:10.1016/j.ejmg.2017.12.011

Article (Scientific journals)

Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia

JACQUINET, Adeline; Brown, L.; Sawkins, J. et al.

2018 • In European Journal of Medical Genetics

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/218647

DOI
10.1016/j.ejmg.2017.12.011

PubMed
29278735

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Keywords :

Chromosome breakage; FANCO; Fanconi anemia; RAD51C

Abstract :

[en] Fanconi anemia is a rare chromosome instability disorder with a highly variable phenotype. In the antenatal and neonatal periods, the diagnosis is usually suggested by the presence of typical congenital abnormalities such as intrauterine growth retardation, microcephaly and radial ray defects. We report a newborn female with a prenatal diagnosis of Fanconi anemia, complementation group O (FANCO). Antenatal ultrasounds identified symmetrical intrauterine growth retardation, complex heart defect as well as brain anomalies, overlapping fingers and cleft lip and palate. Imperforate anus was detected after birth. Compound heterozygous RAD51C variants c. [571+5G > A]; [c.935G > A] were detected by prenatal whole exome sequencing and cellular hypersensitivity to DNA interstrand crosslinking agents (DEB, MMC) was confirmed after birth. With only one previously described homozygous RAD51C variant to date, our findings expand the phenotypic spectrum of FANCO and suggest it should be part of the antenatal differential diagnosis for trisomy 13 and 18, due to the presence of atypical findings such as cleft lip and palate, holoprosencephaly, growth restriction and overlapping fingers. © 2018 Elsevier Masson SAS.

Disciplines :

Genetics & genetic processes

Author, co-author :

JACQUINET, Adeline ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Service de génétique

Brown, L.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada

Sawkins, J.; Department of Medical Genetics, University of British Columbia, Vancouver, Canada

Liu, P.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, Baylor Genetics, Houston, TX, USA

Pugash, D.; Department of Radiology, University of British Columbia, Vancouver, Canada

Van Allen, M. I.; Department of Medical Genetics, University of British Columbia, Vancouver, Canada

Patel, M. S.; Department of Medical Genetics, University of British Columbia, Vancouver, Canada

Language :

English

Title :

Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia

Publication date :

2018

Journal title :

European Journal of Medical Genetics

ISSN :

1769-7212

eISSN :

1878-0849

Publisher :

Elsevier Masson SAS, Netherlands

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 18 January 2018

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