Novel genetic causes for cerebral visual impairment

European Journal of Human Genetics

Volumn 24, Issue 5, 2016, Pages 660-665

  Bosch, Danille G M ^a,b,c,d   Boonstra, F Nienke ^b,d   De Leeuw, Nicole ^a   Pfundt, Rolph ^a   Nillesen, Willy M ^a   De Ligt, Joep ^a,c,e   Gilissen, Christian ^a,c   Jhangiani, Shalini ^f   Lupski, James R ^f,g   Cremers, Frans P M ^a,c   De Vries, Bert B A ^a,d  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Bartiméus Institute for the Visually Impaired   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR BETA2; EXCITATORY AMINO ACID TRANSPORTER 3; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B; POTASSIUM CHANNEL KCNQ3; TRANSCRIPTION FACTOR SOX5;

ADOLESCENT; ADULT; ARTICLE; CEREBRAL VISUAL IMPAIRMENT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FEMALE; GENE FUNCTION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; INVESTIGATIVE PROCEDURES; MALE; PRIORITY JOURNAL; VISUAL IMPAIRMENT; WHOLE EXOME SEQUENCING; BLINDNESS, CORTICAL; GENE LOCUS; GENETICS; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT;

ADOLESCENT; BLINDNESS, CORTICAL; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC LOCI; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84941213503     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.186     Document Type: Article

References (74)

1. Boonstra N, Limburg H, Tijmes N, Van Genderen M, Schuil J, Van Nispen R. Changes in causes of low vision between 1988 and 2009 in a Dutch population of children. Acta Ophthalmol 2012; 90: 277-286
2. Dutton GN, Jacobson LK. Cerebral visual impairment in children. Semin Neonatol 2001; 6: 477-485
3. Good WV, Jan JE, DeSa L, Barkovich AJ, Groenveld M, Hoyt CS. Cortical visual impairment in children. Surv Ophthalmol 1994; 38: 351-364
4. Ortibus E, Lagae L, Casteels I, Demaerel P, Stiers P. Assessment of cerebral visual impairment with the L94 visual perceptual battery: clinical value and correlation with MRI findings. Dev Med Child Neurol 2009; 51: 209-217
5. Saidkasimova S, Bennett DM, Butler S, Dutton GN. Cognitive visual impairment with good visual acuity in children with posterior periventricular white matter injury: a series of 7 cases. J AAPOS 2007; 11: 426-430
6. Fazzi E, Signorini SG, Bova SM, et al. Spectrum of visual disorders in children with cerebral visual impairment. J Child Neurol 2007; 22: 294-301
7. Khetpal V, Donahue SP. Cortical visual impairment: etiology, associated findings, and prognosis in a tertiary care setting. J AAPOS 2007; 11: 235-239
8. Bosch DG, Boonstra FN, Willemsen MA, Cremers FP, De Vries BB. Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes. BMC Ophthalmol 2014; 14: 59
9. Towbin R, Garcia-Revillo J, Fitz C. Orbital hydrocephalus: a proven cause for optic atrophy. Pediatr Radiol 1998; 28: 995-997
10. Castano G, Lyons CJ, Jan JE, Connolly M. Cortical visual impairment in children with infantile spasms. J AAPOS 2000; 4: 175-178
11. Afshari MA, Afshari NA, Fulton AB. Cortical visual impairment in infants and children. Int Ophthalmol Clin 2001; 41: 159-169
12. Bosch DG, Boonstra FN, Reijnders MR, Pfundt R, Cremers FP, De Vries BB. Chromosomal aberrations in cerebral visual impairment. Eur J Paediatr Neurol 2014; 18: 677-684
13. Bosch DG, Boonstra FN, Gonzaga-Jauregui C, et al. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 2014; 94: 303-309
14. Vissers LE, De Ligt J, Gilissen C, et al. A De novo paradigm for mental retardation. Nat Genet 2010; 42: 1109-1112
15. De Ligt J, Willemsen MH, Van Bon BW, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012; 367: 1921-1929
16. Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012; 380: 1674-1682
17. O'Roak BJ, Vives L, Girirajan S, et al. Sporadic autism exomes reveal a highly interconnected protein network of De novo mutations. Nat New Biol 2012; 485: 246-250
18. Epi4K Consortium, Epilepsy Phenome/Genome Project, Allen AS, et al. De novo mutations in epileptic encephalopathies. Nature 2013; 501: 217-221
19. Wright CF, Fitzgerald TW, Jones WD, et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet 2015; 385: 1305-1314
20. Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014; 312: 1870-1879
21. Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, et al. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet 2013; 50: 802-811
22. Tarpey PS, Smith R, Pleasance E, et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 2009; 41: 535-543
23. Najmabadi H, Hu H, Garshasbi M, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011; 478: 57-63
24. Alazami AM, Patel N, Shamseldin HE, et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep 2015; 10: 148-161
25. Gilissen C, Hehir-Kwa JY, Thung DT, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature 2014; 511: 344-347
26. Bosch DG, Boonstra FN, Kinoshita T, et al. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet 2015; 23: 1689-1693
27. Xia F, Bainbridge MN, Tan TY, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet 2014; 94: 784-789
28. Enns GM, Shashi V, Bainbridge M, et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-Associated degradation pathway. Genet Med 2014; 16: 751-758
29. Williams C, Jiang YH, Shashi V, et al. Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. Clin Genet 2015; e-pub ahead of print 30 March 2015; doi:10.1111/cge.12581
30. Jensen H, Kjaergaard S, Klie F, Moller HU. Ophthalmic manifestations of congenital disorder of glycosylation type 1a. Ophthalmic Genet 2003; 24: 81-88
31. Morava E, Wevers RA, Cantagrel V, et al. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain 2010; 133: 3210-3220
32. Need AC, Shashi V, Hitomi Y, et al. Mutations in NGLY1 gene linked with new genetic disorder: parents' reports of children's symptoms help facilitate the discovery. Am J Med Genet A 2014; 164: viii-vi.
33. Caglayan AO, Comu S, Baranoski JF, et al. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet 2015; 58: 39-43
34. Kodera H, Nakamura K, Osaka H, et al. De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat 2013; 34: 1708-1714
35. Ng BG, Buckingham KJ, Raymond K, et al. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet 2013; 92: 632-636
36. Dorre K, Olczak M, Wada Y, et al. A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. J Inherit Metab Dis 2015; e-pub ahead of print 17 March 2015
37. Swoboda KJ, Margraf RL, Carey JC, et al. A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. Am J Med Genet A 2014; 164A: 17-28
38. Maydan G, Noyman I, Har-Zahav A, et al. Multiple congenital anomalies-hypotoniaseizures syndrome is caused by a mutation in PIGN. J Med Genet 2011; 48: 383-389
39. Kvarnung M, Nilsson D, Lindstrand A, et al. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet 2013; 50: 521-528
40. Nakashima M, Kashii H, Murakami Y, et al. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenetics 2014; 15: 193-200
41. Murakami Y, Tawamie H, Maeda Y, et al. Null mutation in PGAP1 impairing Gpi-Anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genet 2014; 10: e1004320
42. Wang L, Rajan H, Pitman JL, McKeown M, Tsai CC. Histone deacetylase-Associating Atrophin proteins are nuclear receptor corepressors. Genes Dev 2006; 20: 525-530
43. Kim BJ, Zaveri HP, Shchelochkov OA, et al. An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions. PLoS One 2013; 8: e57460
44. Vilhais-Neto GC, Maruhashi M, Smith KT, et al. Rere controls retinoic acid signalling and somite bilateral symmetry. Nature 2010; 463: 953-957
45. Laursen KB, Mongan NP, Zhuang Y, Ng MM, Benoit YD, Gudas LJ. Polycomb recruitment attenuates retinoic acid-induced transcription of the bivalent NR2F1 gene. Nucleic Acids Res 2013; 41: 6430-6443
46. Endele S, Rosenberger G, Geider K, et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010; 42: 1021-1026
47. Yashiro K, Philpot BD. Regulation of NMDA receptor subunit expression and its implications for LTD, LTP, and metaplasticity. Neuropharmacology 2008; 55: 1081-1094
48. Venkateswaran S, Myers KA, Smith AC, et al. Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, De novo GRIN2A mutation. Epilepsia 2014; 55: e75-e79
49. Freunscht I, Popp B, Blank R, et al. Behavioral phenotype in five individuals with De novo mutations within the GRIN2B gene. Behav Brain Funct 2013; 9: 20
50. Lemke JR, Hendrickx R, Geider K, et al. GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol 2014; 75: 147-154
51. O'Roak BJ, Vives L, Fu W, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 2012; 338: 1619-1622
52. O'Roak BJ, Deriziotis P, Lee C, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe De novo mutations. Nat Genet 2011; 43: 585-589
53. Forrest D, Yuzaki M, Soares HD, et al. Targeted disruption of NMDA receptor 1 gene abolishes NMDA response and results in neonatal death. Neuron 1994; 13: 325-338
54. Hamdan FF, Gauthier J, Araki Y, et al. Excess of De novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet 2011; 88: 306-316
55. Redin C, Gerard B, Lauer J, et al. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-Throughput sequencing. J Med Genet 2014; 51: 724-736
56. Mitchell A, Chang HY, Daugherty L, et al. The InterPro protein families database: the classification resource after 15 years. Nucleic Acids Res 2015; 43: D213-D221
57. Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998; 18: 53-55
58. Fister P, Soltirovska-Salamon A, Debeljak M, Paro-Panjan D. Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case. Eur J Paediatr Neurol 2013; 17: 308-310
59. Hirose S, Zenri F, Akiyoshi H, et al. A novel mutation of KCNQ3 (c.925T-4C) in a Japanese family with benign familial neonatal convulsions. Ann Neurol 2000; 47: 822-826
60. Li H, Li N, Shen L, et al. A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. Epilepsy Res 2008; 79: 1-5
61. Zara F, Specchio N, Striano P, et al. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 2013; 54: 425-436
62. Neubauer BA, Waldegger S, Heinzinger J, et al. KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology 2008; 71: 177-183
63. Singh NA, Westenskow P, Charlier C, et al. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain 2003; 126: 2726-2737
64. Allen NM, Mannion M, Conroy J, et al. The variable phenotypes of KCNQ-related epilepsy. Epilepsia 2014; 55: e99-105
65. Fusco C, Frattini D, Bassi MT. A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes. Eur J Paediatr Neurol 2015; 19: 102-103
66. Soldovieri MV, Boutry-Kryza N, Milh M, et al. Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. Hum Mutat 2014; 35: 356-367
67. Miceli F, Striano P, Soldovieri MV, et al. A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability. Epilepsia 2015; 56: e15-e20
68. Srivastava S, Cohen J, Pevsner J, et al. A novel variant in GABRB2 associated with intellectual disability and epilepsy. Am J Med Genet A 2014; 164A: 2914-2921
69. Lamb AN, Rosenfeld JA, Neill NJ, et al. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat 2012; 33: 728-740
70. Lee RW, Bodurtha J, Cohen J, Fatemi A, Batista D. Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. Pediatr Neurol 2013; 48: 317-320
71. Schanze I, Schanze D, Bacino CA, Douzgou S, Kerr B, Zenker M. Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability. Eur J Med Genet 2013; 56: 108-113
72. MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW. The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 2014; 42: D986-D992
73. Williamson KA, FitzPatrick DR. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet 2014; 57: 369-380
74. Nielsen LS, Skov L, Jensen H. Visual dysfunctions and ocular disorders in children with developmental delay. I. prevalence, diagnoses and aetiology of visual impairment. Acta Ophthalmol Scand 2007; 85: 149-156