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Yıl 2022, Cilt: 44 Sayı: 2, 165 - 171, 30.06.2022

Murat Erdoğan , Hakan Gümüş , Didem Behice Öztop , Burhan Balta , Keziban Korkmaz Bayram Munis Dündar

https://doi.org/10.7197/cmj.1121531

Öz

Kaynakça

  • 1. Hauser W, Kurland LT. The epidemiology of epilepsy in Rochester, Minnesota, 1935 through 1967. Epilepsia 1975; 16:1-66.
  • 2. Commission on Classification and Terminology of the International League Against Epilepsy (ILAE). Guidelines for epidemiologic studies on epilepsy. Commission on Epidemiology and Prognosis. Epilepsia 1993; 34: 592-96.
  • 3. Tripathi M and Jain S. Genetics of epilepsy. Current Scıence, vol. 82, no. 6, 25 March 2002
  • 4. Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology 2007 Jul 31; 69: 427– 33.
  • 5. Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression burst pattern (Ohtahara syndrome). Am J Hum Genet 2007 Aug; 81: 361–66.
  • 6. Marini C, Mei D, Temudo T, Ferrari AT, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia 2007 Sep; 48: 1678– 85.
  • 7. 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. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 2009 Feb; 5(2) : e1000381
  • 8. Saitsu H, Kato M, T Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008 June; 40: 782–88.
  • 9. Guerrini R, Parrini E. Neuronal migration disorders. Neurobiol Dis. 2010 May; 38(2): 154–66.
  • 10. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen MA, Arzimanoglou A, Philippe, Jonveaux CP, JChelly J, Bienvenu T. Key clinical features to identify girls with CDKL5 mutations. Brain 2008 Oct;131(Pt10) 2647–61.
  • 11. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 2005 Jul 15; (14) 14: 1935–46.
  • 12. Allik H, Larsson JO, Smedje H (2006). Sleep patterns of school-age children with Asperger syndrome or high-functioning autism. J Autism Dev Disord 36: 585-95.
  • 13. Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA. Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder: clinical review. Pediatr Neurol. 2019 August; 97: 18–25.
  • 14. Montini E, Andolfi G, Caruso A, Buchner G, Walpole SM, Mariani M, Consalez G, Trump D, Ballabio A, Franco B. Identification and Characterization of a Novel Serine–Threonine Kinase Gene from the Xp22 Region. Genomics 1998 Aug 1; 51: 427–33
  • 15. Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gécz J. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 2003 Jun; 72 (6): 1401–11.
  • 16. Hector RD, Dando O, Landsberger N, Kilstrup-Nielsen C, Kind PC, Bailey MES, Cobb SR. Characterisation of CDKL5 Transcript Isoforms in Human and Mouse. PLoS One. 2016; 11(6): e0157758.
  • 17. Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005 Feb; 42(2): 103–7
  • 18. Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, GécJz, Ropers HH, Kalscheuer VM. Mutations in the X-linked cyclindependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 2004 Dec75(6): 1149–54.
  • 19. Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M,Tolmie J, Sampson J, Clarke A, Osborne J. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 2006 Sep; 43(9): 729–34.
  • 20. Grosso S, Brogna A, Bazzotti S, Renieri A, Morgese G, Balestri P. Seizures and electroencephalographic findings in CDKL5 mutations: Case report and review. Brain & Development 29 (2007): 239–42
  • 21. Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg S, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C. Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clin Genet 2009; 76: 357-71.
  • 22. Tuchman R, Rapin I. Epilepsy in autism, Lancet Neurol. 2002 Oct;1(6): 352–8

Investigation of CDKL5 Gene Mutations in Autistic Patients Accompanied with Intractable Seizures, Autistic Disorder and Seizure in Infancy and Early Childhood

Yıl 2022, Cilt: 44 Sayı: 2, 165 - 171, 30.06.2022

Murat Erdoğan , Hakan Gümüş , Didem Behice Öztop , Burhan Balta , Keziban Korkmaz Bayram Munis Dündar

https://doi.org/10.7197/cmj.1121531

Öz

Cyclin-dependent kinase-like 5 (CDKL5, OMIM 300203), also known as STK9 (serine/threonine kinase 9), is a gene that is thought to play a role in the production of proteins involved in the normal development of the brain, although its function is not known exactly. It is located in the p22.13 region of X chromosome. Some of the mutations reported in this gene have been found to be associated with epilepsy characterized with progressive seizures, non-epileptic autism and mild epilepsy phenotypes in infancy and early childhood despite treatment with at least two antiepileptic drugs (AED). In this study, we evaluated the relationship between c.119C>T (A40V) rs122460159, c.215T>A/C (I72N, I72T) rs62641235, c.455G>T (C152P) rs122460157, c.525A>T (R175S) rs61749700, c.533G>A (G178D) rs267606715, c.539C>T (P180L) rs61749704, c.1330C>T (R444C) rs561753977 and c.2635_2636delCT (L879E) rs61753251 polymorphisms in CDKL5 gene (NM_001323289) and intractable seizures and autism disorder. DNA extraction was performed after blood samples were collected. Identified mutations were analysed with Real-Time PCR method. The results obtained from the patient and control groups were compared. It was found that one female patient in the intractable seizure patient group carried the CDKL5 gene c.525 A>T p.(R175S) mutation, while one female patient in the intractable seizure patient group carried the c.539 C>T p.(P180L) mutation. It is thought that CDKL5 gene mutation research will be useful in the diagnosis of aetiology in new-borns that have intractable epilepsy despite AED treatment. The fact that CDKL5 mutant patients have autistic findings shows that this gene is among candidate genes for ASD, although no mutation was found in this patient group in our study. 

Anahtar Kelimeler

: CDKL5 gene drug resistance epilepsy genetic polymorphism autistic disorder RTPCR

Kaynakça

  • 1. Hauser W, Kurland LT. The epidemiology of epilepsy in Rochester, Minnesota, 1935 through 1967. Epilepsia 1975; 16:1-66.
  • 2. Commission on Classification and Terminology of the International League Against Epilepsy (ILAE). Guidelines for epidemiologic studies on epilepsy. Commission on Epidemiology and Prognosis. Epilepsia 1993; 34: 592-96.
  • 3. Tripathi M and Jain S. Genetics of epilepsy. Current Scıence, vol. 82, no. 6, 25 March 2002
  • 4. Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology 2007 Jul 31; 69: 427– 33.
  • 5. Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression burst pattern (Ohtahara syndrome). Am J Hum Genet 2007 Aug; 81: 361–66.
  • 6. Marini C, Mei D, Temudo T, Ferrari AT, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia 2007 Sep; 48: 1678– 85.
  • 7. 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. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 2009 Feb; 5(2) : e1000381
  • 8. Saitsu H, Kato M, T Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008 June; 40: 782–88.
  • 9. Guerrini R, Parrini E. Neuronal migration disorders. Neurobiol Dis. 2010 May; 38(2): 154–66.
  • 10. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen MA, Arzimanoglou A, Philippe, Jonveaux CP, JChelly J, Bienvenu T. Key clinical features to identify girls with CDKL5 mutations. Brain 2008 Oct;131(Pt10) 2647–61.
  • 11. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 2005 Jul 15; (14) 14: 1935–46.
  • 12. Allik H, Larsson JO, Smedje H (2006). Sleep patterns of school-age children with Asperger syndrome or high-functioning autism. J Autism Dev Disord 36: 585-95.
  • 13. Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA. Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder: clinical review. Pediatr Neurol. 2019 August; 97: 18–25.
  • 14. Montini E, Andolfi G, Caruso A, Buchner G, Walpole SM, Mariani M, Consalez G, Trump D, Ballabio A, Franco B. Identification and Characterization of a Novel Serine–Threonine Kinase Gene from the Xp22 Region. Genomics 1998 Aug 1; 51: 427–33
  • 15. Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gécz J. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 2003 Jun; 72 (6): 1401–11.
  • 16. Hector RD, Dando O, Landsberger N, Kilstrup-Nielsen C, Kind PC, Bailey MES, Cobb SR. Characterisation of CDKL5 Transcript Isoforms in Human and Mouse. PLoS One. 2016; 11(6): e0157758.
  • 17. Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005 Feb; 42(2): 103–7
  • 18. Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, GécJz, Ropers HH, Kalscheuer VM. Mutations in the X-linked cyclindependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 2004 Dec75(6): 1149–54.
  • 19. Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M,Tolmie J, Sampson J, Clarke A, Osborne J. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 2006 Sep; 43(9): 729–34.
  • 20. Grosso S, Brogna A, Bazzotti S, Renieri A, Morgese G, Balestri P. Seizures and electroencephalographic findings in CDKL5 mutations: Case report and review. Brain & Development 29 (2007): 239–42
  • 21. Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg S, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C. Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clin Genet 2009; 76: 357-71.
  • 22. Tuchman R, Rapin I. Epilepsy in autism, Lancet Neurol. 2002 Oct;1(6): 352–8
Toplam 22 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Kurumları Yönetimi
Bölüm Dahili Tıp Bilimleri Araştırma Yazıları
Yazarlar

Murat Erdoğan 0000-0001-8768-4457

Hakan Gümüş 0000-0001-5896-074X

Didem Behice Öztop 0000-0003-3189-2112

Burhan Balta 0000-0003-2672-2493

Keziban Korkmaz Bayram 0000-0002-1228-1298

Munis Dündar 0000-0003-0969-4611

Yayımlanma Tarihi 30 Haziran 2022
Kabul Tarihi 18 Haziran 2022
Yayımlandığı Sayı Yıl 2022Cilt: 44 Sayı: 2

Kaynak Göster

AMA Erdoğan M, Gümüş H, Öztop DB, Balta B, Korkmaz Bayram K, Dündar M. Investigation of CDKL5 Gene Mutations in Autistic Patients Accompanied with Intractable Seizures, Autistic Disorder and Seizure in Infancy and Early Childhood. CMJ. Haziran 2022;44(2):165-171. doi:10.7197/cmj.1121531