Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association

Human Mutation

Volumn 36, Issue 5, 2015, Pages 562-568

  Vetro, Annalisa ^a   Iascone, Maria ^b   Limongelli, Ivan ^a   Ameziane, Najim ^c   Gana, Simone ^d   Mina, Erika Della ^d   Giussani, Ursula ^b   Ciccone, Roberto ^d,e   Forlino, Antonella ^d   Pezzoli, Laura ^b   Rooimans, Martin A ^c   van Essen, Antoni J ^f   Messa, Jole ^d   Rizzuti, Tommaso ^g   Bianchi, Paolo ^b   Dorsman, Josephine ^c   de Winter, Johan P ^c   Lalatta, Faustina ^g   Zuffardi, Orsetta ^d  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b Azienda Ospedaliera Papa Giovanni XXIII   (Italy)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF PAVIA   (Italy)

^e C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^g FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Exome sequencing; FANCL; Fanconi anemia; Prenatal diagnosis; VACTERL

Indexed keywords

FANCONI ANEMIA GROUP L PROTEIN;

ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOMAL INSTABILITY; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME FRAGILITY; DISEASE SEVERITY; ECTOPIC KIDNEY; EXOME; FANCONI ANEMIA; FEMALE; FETUS ECHOGRAPHY; GENETIC ASSOCIATION; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HUMAN; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE 46,XY; LOSS OF FUNCTION MUTATION; NEWBORN; NEXT GENERATION SEQUENCING; NONSENSE MEDIATED MRNA DECAY; PRIORITY JOURNAL; TRACHEOESOPHAGEAL FISTULA; VACTERL ASSOCIATION; ANAL CANAL; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; ESOPHAGUS; GENETICS; HEART DEFECTS, CONGENITAL; HIGH THROUGHPUT SEQUENCING; INDUCED ABORTION; KIDNEY; LIMB DEFORMITIES, CONGENITAL; LIVE BIRTH; MALE; MUTATION; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; SEVERITY OF ILLNESS INDEX; SPINE; TRACHEA;

ABORTION, INDUCED; ANAL CANAL; CHROMOSOME BREAKAGE; DIAGNOSIS, DIFFERENTIAL; ESOPHAGUS; EXOME; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP L PROTEIN; FEMALE; HEART DEFECTS, CONGENITAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT, NEWBORN; KIDNEY; LIMB DEFORMITIES, CONGENITAL; LIVE BIRTH; MALE; MUTATION; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; SEVERITY OF ILLNESS INDEX; SPINE; TRACHEA;

EID: 84928214413     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22784     Document Type: Article

References (27)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.
2. Ali AM, Kirby M, Jansen M, Lach FP, Schulte J, Singh TR, Batish SD, Auerbach AD, Williams DA, Meetei AR. 2009. Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. Hum Mutat 30:E761-E70.
3. Alter BP, Rosenberg PS. 2013. VACTERL-H association and Fanconi anemia. Mol Syndromol 4:87-93.
4. Ameziane N, Sie D, Dentro S, Ariyurek Y, Kerkhoven L, Joenje H, Dorsman JC, Ylstra B, Gille JJ, Sistermans EA, deWinter JP. 2012. Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing. Anemia 2012:132856.
5. Andolfo I, Alper SL, DeFranceschi L, Auriemma C, Russo R, DeFalco L, Vallefuoco F, Esposito MR, Vandorpe DH, Shmukler BE, Narayan R, Montanaro D, et al. 2013. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood 121:3925-3935.
6. Auerbach AD. 2003. Diagnosis of fanconi anemia by diepoxybutane analysis. Curr Protoc Hum Genet Chapter 8:Unit 8.7.
7. Bakker ST, deWinter JP, te Riele H. 2013. Learning from a paradox: recent insights into Fanconi anaemia through studying mouse models. Dis Model Mech 6:40-47.
8. Castella M, Pujol R, Callen E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benitez J, Porto B, Ferro T, et al. 2011. Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. Blood 117:3759-3769.
9. Chandrasekharappa SC, Lach FP, Kimble DC, Kamat A, Teer JK, Donovan FX, Flynn E, Sen SK, Thongthip S, Sanborn E, Smogorzewska A, Auerbach AD, et al. 2013. Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. Blood 121:e138-e148.
10. Faivre L, Portnoi MF, Pals G, Stoppa-Lyonnet D, LeMerrer M, Thauvin-Robinet C, Huet F, Mathew CG, Joenje H, Verloes A, Baumann C. 2005. Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A 137:55-58.
11. Huck K, Hanenberg H, Gudowius S, Fenk R, Kalb R, Neveling K, Betz B, Niederacher D, Haas R, Gobel U, Kobbe G, Schindler D. 2006. Delayed diagnosis and complications of Fanconi anaemia at advanced age-a paradigm. Br J Haematol 133:188-197.
12. Joenje H, Lo ten Foe JR, Oostra AB, vanBerkel CG, Rooimans MA, Schroeder-Kurth T, Wegner RD, Gille JJ, Buchwald M, Arwert F. 1995. Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood 86:2156-2160.
13. Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, Casado JA, Bueren J, et al. 2007. Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. Am J Hum Genet 80:895-910.
14. Klingseisen A, Jackson AP. 2011. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev 25:2011-2024.
15. Levitus M, Rooimans MA, Steltenpool J, Cool NF, Oostra AB, Mathew CG, Hoatlin ME, Waisfisz Q, Arwert F, deWinter JP, Joenje H. 2004. Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. Blood 103:2498-2503.
16. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R. 2009. The sequence alignment/map format and SAMtools. Bioinformatics 25:2078-2079.
17. Longerich S, Kwon Y, Tsai MS, Hlaing AS, Kupfer GM, Sung P. 2014. Regulation of FANCD2 and FANCI monoubiquitination by their interaction and by DNA. Nucleic Acids Res 42:5657-5670.
18. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. 2010. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297-1303.
19. Meetei AR, deWinter JP, Medhurst AL, Wallisch M, Waisfisz Q, vande Vrugt HJ, Oostra AB, Yan Z, Ling C, Bishop CE, Hoatlin ME, Joenje H, et al. 2003. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat Genet 35:165-170.
20. Naipal KA, Verkaik NS, Ameziane N, vanDeurzen CH, Ter Brugge P, Meijers M, Sieuwerts AM, Martens JW, O'Connor MJ, Vrieling H, Hoeijmakers JH, Jonkers J, et al. 2014. Functional ex vivo assay to select homologous recombination-deficient breast tumors for PARP inhibitor treatment. Clin Cancer Res 20:4816-4826.
21. Neveling K, Endt D, Hoehn H, Schindler D. 2009. Genotype-phenotype correlations in Fanconi anemia. Mutat Res 668:73-91.
22. Noensie EN, Dietz HC. 2001. A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition. Nat Biotechnol 19:434-439.
23. Oostra AB, Nieuwint AW, Joenje H, deWinter JP. 2012. Diagnosis of fanconi anemia: chromosomal breakage analysis. Anemia 2012:238731.
24. Singh TR, Bakker ST, Agarwal S, Jansen M, Grassman E, Godthelp BC, Ali AM, Du CH, Rooimans MA, Fan Q, Wahengbam K, Steltenpool J, et al. 2009. Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. Blood 114:174-180.
25. Solomon BD. 2011. VACTERL/VATER association. Orphanet J Rare Dis 6:56.
26. Solomon BD, Pineda-Alvarez DE, Hadley DW, Program NCS, Teer JK, Cherukuri PF, Hansen NF, Cruz P, Young AC, Blakesley RW, Lanpher B, Mayfield Gibson S, et al. 2011. Personalized genomic medicine: lessons from the exome. Mol Genet Metab 104:189-191.
27. Thorvaldsdottir H, Robinson JT, Mesirov JP. 2013. Integrative genomics viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 14:178-192.