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Intellectual disability, autosomal dominant 10(MRD10)

MedGen UID:
481914
Concept ID:
C3280284
Mental or Behavioral Dysfunction
Synonym: MRD10
 
Gene (location): CACNG2 (22q12.3)
 
Monarch Initiative: MONDO:0013657
OMIM®: 614256

Definition

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene. [from MONDO]

Clinical features

From HPO
Intellectual disability, moderate
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Brain imaging abnormality
MedGen UID:
751376
Concept ID:
C2711610
Finding
An anomaly of metabolism or structure of the brain identified by imaging.

Professional guidelines

PubMed

Ng SY, Luk HM, Hau EW, Cheng SS, Yu KP, Ho S, Mok MT, Lo IF
Eur J Med Genet 2022 Oct;65(10):104573. Epub 2022 Jul 31 doi: 10.1016/j.ejmg.2022.104573. PMID: 35918040
Sheth H, Pancholi D, Bhavsar R, Mannan AU, Ganapathy A, Chowdhury M, Shah S, Solanki D, Sheth F, Sheth J
Neurol India 2021 Nov-Dec;69(6):1729-1736. doi: 10.4103/0028-3886.333475. PMID: 34979677

Recent clinical studies

Etiology

Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M
Ital J Dermatol Venerol 2023 Aug;158(4):316-320. Epub 2023 Jun 7 doi: 10.23736/S2784-8671.23.07547-3. PMID: 37282850
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ
Am J Med Genet A 2023 Jul;191(7):1900-1910. Epub 2023 May 14 doi: 10.1002/ajmg.a.63226. PMID: 37183572Free PMC Article
Santos M, Damásio J, Carmona S, Neto JL, Dehghani N, Guedes LC, Barbot C, Barros J, Brás J, Sequeiros J, Guerreiro R
Cells 2022 Mar 12;11(6) doi: 10.3390/cells11060981. PMID: 35326432Free PMC Article
Pekeles H, Accogli A, Boudrahem-Addour N, Russell L, Parente F, Srour M
Pediatr Neurol 2019 Mar;92:32-36. Epub 2018 Nov 22 doi: 10.1016/j.pediatrneurol.2018.11.005. PMID: 30581057
Vogel F
Hum Genet 1979 Nov 1;52(1):1-54. doi: 10.1007/BF00284597. PMID: 393614

Diagnosis

Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M
Ital J Dermatol Venerol 2023 Aug;158(4):316-320. Epub 2023 Jun 7 doi: 10.23736/S2784-8671.23.07547-3. PMID: 37282850
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ
Am J Med Genet A 2023 Jul;191(7):1900-1910. Epub 2023 May 14 doi: 10.1002/ajmg.a.63226. PMID: 37183572Free PMC Article
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, Depienne C, De Clercq K, Douglas AGL, Fitzgerald MP, Foulds N, Garel C, Helbig I, Held K, Horn D, Janssen A, Kaindl AM, Narayanan V, Prager C, Rupin-Mas M, Afenjar A, Zhao S, Ramaekers VT, Ruggiero SM, Thomas S, Valence S, Van Maldergem L, Rohacs T, Rodriguez D, Dyment D, Voets T, Vriens J
Elife 2023 Jan 17;12 doi: 10.7554/eLife.81032. PMID: 36648066Free PMC Article
Santos M, Damásio J, Carmona S, Neto JL, Dehghani N, Guedes LC, Barbot C, Barros J, Brás J, Sequeiros J, Guerreiro R
Cells 2022 Mar 12;11(6) doi: 10.3390/cells11060981. PMID: 35326432Free PMC Article
Tanaka Y, Morisada N, Suzuki T, Ohashi Y, Ye MJ, Nozu K, Tsuruta S, Iijima K
CEN Case Rep 2021 May;10(2):184-188. Epub 2020 Oct 13 doi: 10.1007/s13730-020-00543-0. PMID: 33048330Free PMC Article

Therapy

Iulita MF, Garzón Chavez D, Klitgaard Christensen M, Valle Tamayo N, Plana-Ripoll O, Rasmussen SA, Roqué Figuls M, Alcolea D, Videla L, Barroeta I, Benejam B, Altuna M, Padilla C, Pegueroles J, Fernandez S, Belbin O, Carmona-Iragui M, Blesa R, Lleó A, Bejanin A, Fortea J
JAMA Netw Open 2022 May 2;5(5):e2212910. doi: 10.1001/jamanetworkopen.2022.12910. PMID: 35604690Free PMC Article
Jinxiu L, Shuimei L, Ming X, Jonathan LC, Xiangju L, Wenyuan D
Medicine (Baltimore) 2020 Apr;99(16):e19813. doi: 10.1097/MD.0000000000019813. PMID: 32311999Free PMC Article
Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW
Am J Med Genet A 2018 Jul;176(7):1648-1656. doi: 10.1002/ajmg.a.38832. PMID: 30160832
Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M
Hum Genet 2015 Feb;134(2):181-90. Epub 2014 Nov 21 doi: 10.1007/s00439-014-1509-2. PMID: 25413698
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A
Ann Neurol 2014 Oct;76(4):473-83. Epub 2014 Aug 30 doi: 10.1002/ana.24251. PMID: 25131622

Prognosis

Cherian A, K P D, Vijayaraghavan A
Curr Opin Neurol 2023 Aug 1;36(4):292-301. Epub 2023 May 24 doi: 10.1097/WCO.0000000000001167. PMID: 37366140
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Iulita MF, Garzón Chavez D, Klitgaard Christensen M, Valle Tamayo N, Plana-Ripoll O, Rasmussen SA, Roqué Figuls M, Alcolea D, Videla L, Barroeta I, Benejam B, Altuna M, Padilla C, Pegueroles J, Fernandez S, Belbin O, Carmona-Iragui M, Blesa R, Lleó A, Bejanin A, Fortea J
JAMA Netw Open 2022 May 2;5(5):e2212910. doi: 10.1001/jamanetworkopen.2022.12910. PMID: 35604690Free PMC Article
Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV
BMC Neurol 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4. PMID: 32746806Free PMC Article
Ruaud L, Rice GI, Cabrol C, Piard J, Rodero M, van Eyk L, Boucher-Brischoux E, de Noordhout AM, Maré R, Scalais E, Pauly F, Debray FG, Dobyns W, Uggenti C, Park JW, Hur S, Livingston JH, Crow YJ, Van Maldergem L
Hum Mutat 2018 Aug;39(8):1076-1080. Epub 2018 Jun 4 doi: 10.1002/humu.23554. PMID: 29782060Free PMC Article

Clinical prediction guides

Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270Free PMC Article
Cherian A, K P D, Vijayaraghavan A
Curr Opin Neurol 2023 Aug 1;36(4):292-301. Epub 2023 May 24 doi: 10.1097/WCO.0000000000001167. PMID: 37366140
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P
Seizure 2021 May;88:60-72. Epub 2021 Mar 30 doi: 10.1016/j.seizure.2021.03.025. PMID: 33831796
Vogel F
Hum Genet 1979 Nov 1;52(1):1-54. doi: 10.1007/BF00284597. PMID: 393614

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