Congenital Cranial Dysinnervation Disorders

Update Item Information
Identifier 20230316_nanos_pathway1_06
Title Congenital Cranial Dysinnervation Disorders
Creator Mary C. Whitman, MD
Affiliation Boston Children's Hospital;Harvard Medical School, Boston, MA
Subject Congenital Fibrosis of the Extraocular Muscles; Duane Syndrome; Oculomotor Synkinesis; Axon Guidance; Microtubules
Description Congenital Cranial Dysinnervation Disorders (CCDDs) are a group of disorders that lead to congenital defects of eye and facial movement. They result from either improper neuronal differentiation of the cranial motor neurons or abnormal axon guidance of the developing cranial nerves.
Date 2023-03
References 1. Engle EC, The genetic basis of complex strabismus, Pediatr Res, 59, 343-348, 2006. 2. Whitman MC, Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders, Annu Rev Vis Sci, 7, 827-850, 2021. 3. Graeber CP, Hunter DG and Engle EC, The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease, Semin Ophthalmol, 28, 427-437, 2013. 4. Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD and Beggs AH, Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles, Ann Neurol, 41, 314-325, 1997. 5. Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkaemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL and Engle EC, Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1), Nat Genet, 35, 318-321, 2003. 6. Bosley TM, Oystreck DT, Robertson RL, al Awad A, Abu-Amero K and Engle EC, Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A, Brain, 129, 2363- 2374, 2006. 7. Khan AO, Almutlaq M, Oystreck DT, Engle EC, Abu-Amero K and Bosley T, Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2, Ophthalmic Genet, 1-7, 2014. 8. Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcategui CE, de Uzcategui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Moller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML, Jr., Pellman D and Engle EC, Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance, Cell, 140, 74-87, 2010. 9. Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF, Jr., Jabs EW, Hunter DG, Grant PE and Engle EC, A novel syndrome caused by the E410K amino acid substitution in the neuronal beta- tubulin isotype 3, Brain, 136, 522-535, 2013. 10. Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, Lee PR, Toro C, Paul SM, Abdul- Rahman OA, Webb BD, Jabs EW, Moller HU, Larsen DA, Antony JH, Troedson C, Ma A, Ragnhild G, Wirgenes KV, Tham E, Kvarnung M, Maarup TJ, MacKinnon S, Hunter DG, Collins FS, Manoli I and Engle EC, TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy, Hum Genet, 140, 1709-1731, 2021. 11. Kakinuma N and Kiyama R, A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane, Biochem Biophys Res Commun, 386, 639-644, 2009. 12. van der Vaart B, van Riel WE, Doodhi H, Kevenaar JT, Katrukha EA, Gumy L, Bouchet BP, Grigoriev I, Spangler SA, Yu KL, Wulf PS, Wu J, Lansbergen G, van Battum EY, Pasterkamp RJ, Mimori-Kiyosue Y, Demmers J, Olieric N, Maly IV, Hoogenraad CC and Akhmanova A, CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor, Dev Cell, 27, 145-160, 2013. 13. Desai J, Velo MP, Yamada K, Overman LM and Engle EC, Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1), Gene Expr Patterns, 12, 180-188, 2012. 14. Cheng L, Desai J, Miranda CJ, Duncan JS, Qiu W, Nugent AA, Kolpak AL, Wu CC, Drokhlyansky E, Delisle MM, Chan WM, Wei Y, Propst F, Reck-Peterson SL, Fritzsch B and Engle EC, Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling, Neuron, 82, 334- 349, 2014. 15. Chan WM, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, Koc F, Schnall B and Engle EC, Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1, BMC Genet, 8, 26, 2007. 16. Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML, Jr. and Engle EC, An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation, Hum Mol Genet, 21, 5484-5499, 2012. 17. Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM, Care4Rare Canada C, O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG and Engle EC, Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development, Eur J Hum Genet, 29, 816-826, 2021. 18. Lopata MA and Cleveland DW, In vivo microtubules are copolymers of available beta-tubulin isotypes: localization of each of six vertebrate beta-tubulin isotypes using polyclonal antibodies elicited by synthetic peptide antigens, J Cell Biol, 105, 1707-1720, 1987. 19. Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F and Chelly J, Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects, Hum Mol Genet, 19, 4462- 4473, 2010. 20. Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE and Engle EC, Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development, Am J Med Genet A, 170, 297-305, 2016. 21. Latremoliere A, Cheng L, DeLisle M, Wu C, Chew S, Hutchinson EB, Sheridan A, Alexandre C, Latremoliere F, Sheu SH, Golidy S, Omura T, Huebner EA, Fan Y, Whitman MC, Nguyen E, Hermawan C, Pierpaoli C, Tischfield MA, Woolf CJ and Engle EC, Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration, Cell Rep, 24, 1865-1879 e1869, 2018. 22. Barry BJ, Whitman MC, Hunter DG and Engle EC. Duane Syndrome. In: M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. Stephens and A. Amemiya (eds), GeneReviews((R)). Seattle (WA); 1993. 23. Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S and Engle EC, Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome, Science, 321, 839-843, 2008. 24. Demer JL, Clark RA, Lim KH and Engle EC, Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus, Invest Ophthalmol Vis Sci, 48, 194-202, 2007. 25. Ferrario JE, Baskaran P, Clark C, Hendry A, Lerner O, Hintze M, Allen J, Chilton JK and Guthrie S, Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin, Proc Natl Acad Sci U S A, 109, 14669-14674, 2012. 26. Clark C, Austen O, Poparic I and Guthrie S, alpha2-Chimaerin regulates a key axon guidance transition during development of the oculomotor projection, J Neurosci, 33, 16540-16551, 2013. 27. Nugent AA, Park JG, Wei Y, Tenney AP, Gilette NM, DeLisle MM, Chan WM, Cheng L and Engle EC, Mutant alpha2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome, J Clin Invest, 127, 1664-1682, 2017. 28. Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I and Engle EC, Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects, Am J Hum Genet, 98, 1220-1227, 2016. 29. Eichmann A, Grapin-Botton A, Kelly L, Graf T, Le Douarin NM and Sieweke M, The expression pattern of the mafB/kr gene in birds and mice reveals that the kreisler phenotype does not represent a null mutant, Mech Dev, 65, 111-122, 1997. 30. Kim FA, Sing l A, Kaneko T, Bieman M, Stallwood N, Sadl VS and Cordes SP, The vHNF1 homeodomain protein establishes early rhombomere identity by direct regulation of Kreisler expression, Mech Dev, 122, 1300-1309, 2005.
Language eng
Format application/pdf
Type Text
Source 2023 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS Annual Meeting 2023: Insight Into Neuroanatomy: Learning From Pediatric Neuro-Ophthalmic Disorders
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Rights Management Copyright 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6p9247v
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Contributor Primary Mary C. Whitman, MD
Setname ehsl_novel_nam
ID 2309989
Reference URL https://collections.lib.utah.edu/ark:/87278/s6p9247v
Back to Search Results