An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

European Journal of Human Genetics

Volumn 22, Issue 3, 2014, Pages 369-373

  Pebrel Richard, Céline ^a   Debost Legrand, Anne ^b   Eymard Pierre, Eléonore ^a   Greze, Victoria ^b   Kemeny, Stéphan ^a   Gay Bellile, Mathilde ^a   Gouas, Laetitia ^a   Tchirkov, Andreï ^a   Vago, Philippe ^a   Goumy, Carole ^a   Francannet, Christine ^b  

^a UNIVERSITÉ CLERMONT AUVERGNE   (France)

^b UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

Author keywords

16p11.2 deletion syndrome; hemizygous CLN3 mutation; juvenile neuronal ceroid lipofuscinosis

Indexed keywords

ADOLESCENT; AUTISTIC DISORDER; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 16; HEMIZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR CHAPERONES; MUTATION; SEVERITY OF ILLNESS INDEX;

EID: 84894358918     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.141     Document Type: Article

References (23)

1. Ghebranious N, Giampietro PF, Wesbrook FP, Rezkalla SH: A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation. Am J Med Genet A 2007; 143A: 1462-1471.
2. Bijlsma EK, Gijsbers ACJ, Schuurs-Hoeijmakers JHM et al: Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 2009; 52: 77-87.
3. Barge-Schaapveld DQCM, Maas SM, Polstra A, Knegt LC, Hennekam RCM: The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome? Am J Med Genet A 2011; 155A: 1066-1072.
4. Ballif BC, Hornor SA, Jenkins E et al: Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 2007; 39: 1071-1073.
5. Battaglia A, Novelli A, Bernardini L, Igliozzi R, Parrini B: Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. Am J Med Genet A 2009; 149A: 1200-1204.
6. Bachmann-Gagescu R, Mefford HC, Cowan C et al: Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet Med 2010; 12: 641-647.
7. Bochukova EG, Huang N, Keogh J et al: Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 2010; 463: 666-670.
8. Hanson E, Nasir RH, Fong A et al: Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr 2010; 31: 649-657.
9. Sampson MG, Coughlin CR, Kaplan P et al: Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A 2010; 152A: 2618-2622.
10. Taschner PE, De Vos N, Breuning MH: Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. J Med Genet 1997; 34: 955-956.
11. Mitchison HM, Hofmann SL, Becerra CHR et al: Genomic structure and complete nucleotide sequence of the Batten disease gene CLN3. Genomics 1997; 40: 346-350.
12. Mole SE, Williams RE, Goebel HH: Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 2005; 6: 107-126.
13. Phillips SN, Benedict JW, Weimer JM, Pearce DA: CLN3, the protein associated with batten disease: structure, function and localization. J Neurosci Res 2005; 79: 573-583.
14. Rakheja D, Narayan SB, Bennett MJ: The function of CLN3P, the Batten disease protein. Mol Genet Metab 2008; 93: 269-274.
15. Haltia M: The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 2003; 62: 1-13.
16. Lauronen L, Munroe PB, Jarvela I et al: Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. Neurology 1999; 52: 360-365.
17. Coman DJ, Gardner RJM: Deletions that reveal recessive genes. Eur J Hum Genet 2007; 15: 1103-1104.
18. Lee ST, Nicholls RD, Bundey S et al: Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med 1994; 330: 529-534.
19. Liburd N, Ghosh M, Riazuddin S et al: Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet 2001; 109: 535-541.
20. Griffin AE, Cobb B, Anderson P et al: Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR. Clin Genet 2005; 68: 23-30.
21. Flipsen-ten Berg K, van Hasselt PM, Eleveld MJ et al: Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3Mb in a patient with Wolf-Hirschhorn syndrome. Eur J Hum Genet 2007; 15: 1132-1138.
22. Shimada S, Miya K, Oda N et al: An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease. Am J Med Genet A 2012; 158A: 1771-1777.
23. Blumkin L, Kivity S, Lev D et al: A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome. J Neurol 2012; 259: 2590-2598.