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Neurodevelopmental disorder with microcephaly and structural brain anomalies(NEDMIBA)

MedGen UID:
1677276
Concept ID:
C5193123
Disease or Syndrome
Synonyms: NEDMIBA; NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
 
DYNC1I2 (2q31.1)
 
Monarch Initiative: MONDO:0032779
OMIM®: 618492

Clinical features

From HPO

Professional guidelines

PubMed

Du J, Li L, Fu D
Psychiatr Genet 2024 Jun 1;34(3):74-80. Epub 2024 Apr 4 doi: 10.1097/YPG.0000000000000369. PMID: 38690959

Recent clinical studies

Etiology

Wang X, Zheng R, Dukhinova M, Wang L, Shen Y, Lin Z
J Zhejiang Univ Sci B 2024 Oct 2;25(10):878-889. doi: 10.1631/jzus.B2300712. PMID: 39420523Free PMC Article
Prieto-Villalobos J, Alvear TF, Liberona A, Lucero CM, Martínez-Araya CJ, Balmazabal J, Inostroza CA, Ramírez G, Gómez GI, Orellana JA
Int J Mol Sci 2021 Sep 1;22(17) doi: 10.3390/ijms22179503. PMID: 34502412Free PMC Article
Juric-Sekhar G, Hevner RF
Annu Rev Pathol 2019 Jan 24;14:293-318. doi: 10.1146/annurev-pathmechdis-012418-012927. PMID: 30677308Free PMC Article
Vianna P, Gomes JDA, Boquett JA, Fraga LR, Schuch JB, Vianna FSL, Schuler-Faccini L
Neuroimmunomodulation 2018;25(5-6):320-327. Epub 2019 Jan 10 doi: 10.1159/000495660. PMID: 30630174
Seltzer LE, Paciorkowski AR
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):140-55. Epub 2014 May 16 doi: 10.1002/ajmg.c.31400. PMID: 24839169

Diagnosis

Montillot C, Skutunova E, Ayushma, Dubied M, Lahmar A, Nguyen S, Peerally B, Prin F, Duffourd Y, Thauvin-Robinet C, Duplomb L, Wang H, Ansar M, Faivre L, Navarro N, Minocha S, Collins SC, Yalcin B
Neurobiol Dis 2023 Sep;185:106259. Epub 2023 Aug 12 doi: 10.1016/j.nbd.2023.106259. PMID: 37573958
Bijarnia-Mahay S, Somashekar PH, Kaur P, Kulshrestha S, Ramprasad VL, Murugan S, Sud S, Shukla A
J Hum Genet 2022 Mar;67(3):133-136. Epub 2021 Oct 8 doi: 10.1038/s10038-021-00981-3. PMID: 34621002Free PMC Article
Daly T, Roberts A, Yang E, Mochida GH, Bodamer O
Am J Med Genet A 2020 Mar;182(3):441-445. Epub 2019 Dec 17 doi: 10.1002/ajmg.a.61454. PMID: 31846209
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium, Bulman DE, Boycott KM, Lines MA
Hum Mutat 2016 Feb;37(2):148-54. Epub 2015 Nov 19 doi: 10.1002/humu.22924. PMID: 26507355Free PMC Article
Seltzer LE, Paciorkowski AR
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):140-55. Epub 2014 May 16 doi: 10.1002/ajmg.c.31400. PMID: 24839169

Therapy

Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM
Hum Genet 2015 Jun;134(6):577-87. Epub 2015 Mar 20 doi: 10.1007/s00439-015-1541-x. PMID: 25792360
Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, Xie Y, Robson KJ, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA
Cell Rep 2012 Dec 27;2(6):1554-62. Epub 2012 Dec 13 doi: 10.1016/j.celrep.2012.11.017. PMID: 23246003Free PMC Article
Opitz JM, de la Cruz F
Am J Med Genet 1994 May 1;50(4):326-38. doi: 10.1002/ajmg.1320500406. PMID: 7632194
Upfold JB, Smith MS
Med Hypotheses 1988 Sep;27(1):89-92. doi: 10.1016/0306-9877(88)90092-8. PMID: 3205209
Schaff-Blass E, Robertson GL, Rosenfield RL
J Pediatr 1983 May;102(5):703-8. doi: 10.1016/s0022-3476(83)80237-6. PMID: 6188820

Prognosis

Cordelli DM, Di Pisa V, Fetta A, Garavelli L, Maltoni L, Soliani L, Ricci E
Genes (Basel) 2021 Jun 27;12(7) doi: 10.3390/genes12070982. PMID: 34199024Free PMC Article
Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E, Lygia de Macena Sobreira N, Colin E, Vanderver A, Sherbini O, Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H, Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D
J Med Genet 2021 Oct;58(10):712-716. Epub 2020 Aug 20 doi: 10.1136/jmedgenet-2020-107137. PMID: 32820033Free PMC Article
Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM; Regeneron Genetics Center, Torti E, Lee JA, Boycott KM, Basel-Salmon L, Ferreira CR, Gonzaga-Jauregui C
Eur J Hum Genet 2020 Jan;28(1):76-87. Epub 2019 Aug 8 doi: 10.1038/s41431-019-0487-1. PMID: 31395947Free PMC Article
Lévy J, Coussement A, Dupont C, Guimiot F, Baumann C, Viot G, Passemard S, Capri Y, Drunat S, Verloes A, Pipiras E, Benzacken B, Dupont JM, Tabet AC
Am J Med Genet A 2017 Aug;173(8):2081-2087. Epub 2017 Jun 1 doi: 10.1002/ajmg.a.38302. PMID: 28573701
Kumar RA, Leach S, Bonaguro R, Chen J, Yokom DW, Abrahams BS, Seaver L, Schwartz CE, Dobyns W, Brooks-Wilson A, Simpson EM
Genes Brain Behav 2007 Aug;6(6):503-16. Epub 2006 Nov 29 doi: 10.1111/j.1601-183X.2006.00277.x. PMID: 17054721Free PMC Article

Clinical prediction guides

Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators, Masuelli L, Conti V, Novarino G, Fassio A
Brain 2022 Aug 27;145(8):2687-2703. doi: 10.1093/brain/awac145. PMID: 35675510Free PMC Article
Prieto-Villalobos J, Alvear TF, Liberona A, Lucero CM, Martínez-Araya CJ, Balmazabal J, Inostroza CA, Ramírez G, Gómez GI, Orellana JA
Int J Mol Sci 2021 Sep 1;22(17) doi: 10.3390/ijms22179503. PMID: 34502412Free PMC Article
Andreu-Cervera A, Catala M, Schneider-Maunoury S
Neurobiol Dis 2021 Mar;150:105236. Epub 2020 Dec 28 doi: 10.1016/j.nbd.2020.105236. PMID: 33383187
Pringsheim M, Mitter D, Schröder S, Warthemann R, Plümacher K, Kluger G, Baethmann M, Bast T, Braun S, Büttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, Höft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Rieß A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K
Ann Clin Transl Neurol 2019 Apr;6(4):655-668. Epub 2019 Mar 3 doi: 10.1002/acn3.735. PMID: 31019990Free PMC Article
Vianna P, Gomes JDA, Boquett JA, Fraga LR, Schuch JB, Vianna FSL, Schuler-Faccini L
Neuroimmunomodulation 2018;25(5-6):320-327. Epub 2019 Jan 10 doi: 10.1159/000495660. PMID: 30630174

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