Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

Neurogenetics

Volumn 14, Issue 1, 2013, Pages 23-34

  Van Harssel, J J T ^a   Weckhuysen, S ^b,c,d   Van Kempen, M J A ^a   Hardies, K ^b,c   Verbeek, N E ^a   De Kovel, C G F ^a   Gunning, W B ^e   Van Daalen, E ^a   De Jonge, M V ^a   Jansen, A C ^f,g   Vermeulen, R J ^h   Arts, W F M ⁱ   Verhelst, H ^j   Fogarasi, A ^k   De Rijk Van Andel, J F ^l   Kelemen, A ^m   Lindhout, D ^a,e   De Jonghe, P ^b,c,n   Koeleman, B P C ^a   Suls, A ^b,c   Brilstra, E H ^a   more..

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d EPILEPSY CENTER KEMPENHAEGHE   (Netherlands)

^e STICHTING EPILEPSIE INSTELLINGEN NEDERLAND SEIN   (Netherlands)

^f UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^g VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

^h VU UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^j GHENT UNIVERSITY HOSPITAL   (Belgium)

^k Bethesda Children's Hospital   (Hungary)

^l AMPHIA HOSPITAL   (Netherlands)

^m Epilepsy Center   (Hungary)

ⁿ ANTWERP UNIVERSITY HOSPITAL   (Belgium)

more..

Author keywords

Autism spectrum disorder; Epilepsy; Genetics; PCDH19; X linked

Indexed keywords

PROCADHERIN 19; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTISM; CHILD; CLINICAL FEATURE; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPSY AND MENTAL RETARDATION LIMITED TO FEMALE; FEMALE; FEVER; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MYOCLONUS SEIZURE; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEVERE MYOCLONIC EPILEPSY IN INFANCY; TONIC SEIZURE;

ADOLESCENT; CADHERINS; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; COHORT STUDIES; EPILEPSIES, MYOCLONIC; EPILEPSY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; PENETRANCE; SEX CHARACTERISTICS; SYNDROME;

EID: 84873716487     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-013-0353-1     Document Type: Article

References (32)

1. Juberg RC, Hellman CD (1971) A new familial form of convulsive disorder and mental retardation limited to females. J Pediatr 79:726-732
2. Fabisiak K, Erickson RP (1990) A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms. Clin Genet 38:353-358
3. Ryan SG, Chance PF, Zou CH, Spinner NB, Golden JA, Smietana S (1997) Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Nat Genet 17:92-95
4. Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers HH, Szepetowski P, Haan E, Mazarib A, Afawi Z, Neufeld MY, Andrews PI, Wallace G, Kivity S, Lev D, Lerman-Sagie T, Derry CP, Korczyn AD, Gecz J, Mulley JC, Berkovic SF (2008) Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain 131:918-927
5. Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J (2008) X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 40:776-781
6. Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E (2009) Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 2:e1000381
7. Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE (2010) Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. J Med Genet 47:211-216
8. Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini R (2010) Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology 75:646-653
9. Jamal SM, Basran RK, Newton S, Wang Z, Milunsky JM (2010) Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. Am J Med Genet A 152A:2475-2481
10. Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E (2011) Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat 32:E1959-E1975
11. Dibbens LM, Kneen R, Bayly MA, Heron SE, Arsov T, Damiano JA, Desai T, Gibbs J, McKenzie F, Mulley JC, Ronan A, Scheffer IE (2011) Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. Neurology 76:1514-1519
12. Specchio N, Marini C, Terracciano A, Mei D, Trivisano M, Sicca F, Fusco L, Cusmai R, Darra F, Bernardina BD, Bertini E, Guerrini R, Vigevano F (2011) Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. Epilepsia 52:1251-1257
13. Specchio N, Fusco L, Vigevano F (2011) Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation. Epilepsia 52:e172-e175
14. Higurashi N, Shi X, Yasumoto S, Oguni H, Sakauchi M, Itomi K, Miyamoto A, Shiraishi H, Kato T, Makita Y, Hirose S (2012) PCDH19 mutation in Japanese females with epilepsy. Epilepsy Res 99:28-37
15. Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB, Morel CF (2011) Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures. Clin Genet 82:540-545
16. Camacho A, Simón R, Sanz R, Viñuela A, Martínez-Salio A, Mateos F (2012) Cognitive and behavioral profile in females with epilepsy with PCDH19 mutation: two novel mutations and review of the literature. Epilepsy Behav 24:134-137
17. Depienne C, Leguern E (2012) PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. Hum Mutat 33:627-634
18. Dimova PS, Kirov A, Todorova A, Todorov T, Mitev V (2012) A novel PCDH19 mutation inherited from an unaffected mother. Pediatr Neurol 46:397-400
19. Kwong AK, Fung CW, Chan SY, Wong VC (2012) Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. PloS One 7:e41802. doi: 10.1371/journal.pone.0041802
20. Marini C, Darra F, Specchio N, Mei D, Terracciano A, Parmeggiani L, Ferrari A, Sicca F, Mastrangelo M, Spaccini L, Canopoli ML, Cesaroni E, Zamponi N, Caffi L, Ricciardelli P, Grosso S, Pisano T, Canevini MP, Granata T, Accorsi P, Battaglia D, Cusmai R, Vigevano F, Bernardina BD, Guerrini R (2012) Focal seizures with affective symptoms are a major feature of PCDH10 gene-related epilepsy. Epilepsia 53:2111-2119. doi: 10.1111/j.1528-1167.2012.03649.x
21. Terracciano A, Specchio N, Darra F, Sferra A, Bernardina BD, Vigevano F, Bertini E (2012) Somatic mosaicism of PCDH10 mutation in a family with low-penetrance EFMR. Neurogenetics 13:341-345
22. Grantham R (1974) Amino acid difference formula to help explain protein evolution. Science 185:862-864
23. Claes L, Ceulemans B, Audenaert D, Smets K, Lofgren A, Del-Favero J, Ala-Mello S, Basel-Vanagaite L, Plecko B, Raskin S, Thiry P, Wolf NI, Van Broeckhoven C, De Jonghe P (2003) De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat 21:615-621
24. Wolff M, Casse-Perrot C, Dravet C (2006) Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia 47(Suppl 2):45-48
25. Genton P, Velizarova R, Dravet C (2011) Dravet syndrome: the long-term outcome. Epilepsia 52(Suppl 2):44-49
26. Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, Woodward C, Davis MB, Smith SJ, Cross JH, Appleton RE, Yendle SC, McMahon JM, Bellows ST, Jacques TS, Zuberi SM, Koepp MJ, Martinian L, Scheffer IE, Thom M, Sisodiya SM (2011) Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain 134:2982-3010
27. Petrelli C, Passamonti C, Cesaroni E, Mei D, Guerrini R, Zamponi N, Provinciali L (2012) Early clinical features in Dravet syndrome patients with and without SCN1A mutations. Epilepsy Res 99:21-27
28. Wakai S, Ito N, Sueoka H, Kawamoto Y, Hayasaka H, Chiba S (1996) Severe myoclonic epilepsy in infancy and carbamazepine. Eur J Pediatr 155:724
29. Guerrini R, Dravet C, Genton P, Belmonte A, Kaminska A, Dulac O (1998) Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia 39:508-512
30. Lindhout D (2008) Somatic mosaicism as a basic epileptogenic mechanism? Brain 131:900-901
31. Piton A, Gauthier J, Hamdan FF, Lafrenière RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera L, Spiegelman D, Kuku F, Duguay J, Destroismaisons L, Jolivet P, Côté M, Lachapelle K, Diallo O, Raymond A, Marineau C, Champagne N, Xiong L, Gaspar C, Rivière JB, Tarabeux J, Cossette P, Krebs MO, Rapoport JL, Addington A, Delisi LE, Mottron L, Joober R, Fombonne E, Drapeau P, Rouleau GA (2011) Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Mol Psychiatry 16:867-880
32. Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR (2009) A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 41:535-543