Duplications of 17q12 can cause familial fever-related epilepsy syndromes

Neurology

Volumn 81, Issue 16, 2013, Pages 1434-1440

  Hardies, Katia ^a,b   Weckhuysen, Sarah ^a,b   Peeters, Elke ^c   Holmgren, Philip ^a,b   Van Esch, Hilde ^c   De Jonghe, Peter ^a,b,d   Van Paesschen, Wim ^c   Suls, Arvid ^a,b  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AMPLICON; ARTICLE; CHILD; CHROMOSOME; CHROMOSOME 17Q12; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; FAMILIAL DISEASE; FAMILIAL FEVER RELATED EPILEPSY SYNDROME; FEBRILE CONVULSION; FEMALE; FOLLOW UP; GENE REARRANGEMENT; GENERALIZED EPILEPSY; GENETIC SCREENING; HETEROZYGOTE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SEGREGATION ANALYSIS;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; DNA COPY NUMBER VARIATIONS; EPILEPSY; EPILEPSY, GENERALIZED; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; INFANT; MALE; MOSAICISM; MUTATION RATE; PEDIGREE; PHENOTYPE; SEIZURES, FEBRILE; SYNDROME; TRISOMY;

EID: 84888218925     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182a84163     Document Type: Article

References (36)

1. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-490.
2. Girirajan S, Brkanac Z, Coe BP, et al. Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet 2011;7:e1002334.
3. Vermeesch JR, Brady PD, Sanlaville D, Kok K, Hastings RJ. Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics. Hum Mutat 2012;33:906-915.
4. Lee JA, Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006;52:103-121.
5. Hochstenbach R, Buizer-Voskamp JE, Vorstman JA, Ophoff RA. Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders:lessons for diagnostic workflow and research. Cytogenet Genome Res 2011;135:174-202.
6. Striano P, Coppola A, Paravidino R, et al. Clinical significance of rare copy number variations in epilepsy: A casecontrol survey using microarray-based comparative genomic hybridization. Arch Neurol 2012;69:322-330.
7. Mefford HC, Muhle H, Ostertag P, et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 2010;6:e1000962.
8. Mefford HC, Yendle SC, Hsu C, et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol 2011;70:974-985.
9. Mefford HC, Clauin S, Sharp AJ, et al. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 2007;81:1057-1069.
10. Cheroki C, Krepischi-Santos AC, Szuhai K, et al. Genomic imbalances associated with müllerian aplasia. J Med Genet 2008;45:228-232.
11. Nagamani SC, Erez A, Shen J, et al. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet 2010;18:278-284.
12. Mencarelli MA, Katzaki E, Papa FT, et al. Private inherited microdeletion/microduplications: implications in clinical practice. Eur J Med Genet 2008;51:409-416.
13. Moreno-De-Luca D, Mulle JG, Kaminsky EB, et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 2010;87: 618-630.
14. Faguer S, Chassaing N, Bandin F, et al. A 17q12 chromosomal duplication associated with renal disease and esophageal atresia. Eur J Med Genet 2011;54:e437-e440.
15. Brandt T, Desai K, Grodberg D, et al. Complex autism spectrum disorder in a patient with a 17q12 micro duplication. Am J Med Genet A 2012;158A:1170-1177.
16. Hendrix NW, ClemensM, Canavan TP, Surti U, Rajkovic A. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. Fetal Diagn Ther 2012;31:129-133.
17. Bernardini L, Gimelli S, Gervasini C, et al. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky- Kuster-Hauser (MRKH) syndrome: Two case reports. Orphanet J Rare Dis 2009;4:25.
18. Loirat C, Bellanne-Chantelot C, Husson I, Deschenes G, Guigonis V, Chabane N. Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. Nephrol Dial Transplant 2010;25:3430-3433.
19. Haeri S, Devers PL, Kaiser-Rogers KA, et al. Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome. Am J Perinatol 2010;27:559-563.
20. Ledig S, Schippert C, Strick R, Beckmann MW, Oppelt PG, Wieacker P. Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Kuster- Hauser syndrome. Fertil Steril 2011;95:1589-1594.
21. George AM, Love DR, Hayes I, Tsang B. Recurrent transmission of a 17q12 microdeletion and a variable clinical spectrum. Mol Syndromol 2012;2:72-75.
22. Dixit A, Patel C, Harrison R, et al. 17q12 Microdeletion syndrome: Three patients illustrating the phenotypic spectrum. Am J Med Genet A 2012;158A:2317-2321.
23. Hinkes B, Hilgers KF, Bolz HJ, et al. A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy. BMC Nephrol 2012; 13:27.
24. Kumps C, Van RN, Heyrman L, et al. Multiplex amplicon quantification (MAQ), a fast and efficient method for the simultaneous detection of copy number alterations in neuroblastoma. BMC Genomics 2010;11:298.
25. Scheffer IE, Zhang YH, Jansen FE, Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev 2009;31:394-400.
26. Kearney JA. Advances in epilepsy genetics and genomics. Epilepsy Curr 2012;12:143-146.
27. Girirajan S, Rosenfeld JA, Coe BP, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 2012;367:1321-1331.
28. McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews [Internet]. Seattle: University of Washington; 1999.
29. Ledig S, Brucker S, Barresi G, Schomburg J, Rall K, Wieacker P. Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Hum Reprod 2012;27:2872-2875.
30. Xia M, Zhao H, Qin Y, et al. LHX1 mutation screening in 96 patients with müllerian duct abnormalities. Fertil Steril 2012;97:682-685.
31. Stromme P, Mangelsdorf ME, Shaw MA, et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002;30:441-445.
32. Kobayashi A, Kwan KM, Carroll TJ, McMahon AP, Mendelsohn CL, Behringer RR. Distinct and sequential tissue-specific activities of the LIM-class homeobox gene Lim1 for tubular morphogenesis during kidney development. Development 2005;132:2809-2823.
33. Lopez-Casillas F, Bai DH, Luo XC, Kong IS, Hermodson MA, Kim KH. Structure of the coding sequence and primary amino acid sequence of acetylcoenzyme A carboxylase. Proc Natl Acad Sci USA 1988; 85:5784-5788.
34. Wightman PJ, Santer R, Ribes A, et al. MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency. Hum Mutat 2003;22:288-300.
35. Plecko B, Stockler S. Vitamin B6 dependent seizures. Can J Neurol Sci 2009;36:S73-S77.
36. Fujii T, Van Coster RN, Old SE, et al. Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity. Ann Neurol 1994;36:83-89.