Agenesis of the corpus callosum: A clinical approach to diagnosis

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 166, Issue 2, 2014, Pages 184-197

  Palmer, Elizabeth Emma ^a   Mowat, David ^b  

^a SYDNEY CHILDREN'S HOSPITAL   (Australia)

^b NONE

Author keywords

Agenesis of the corpus callosum; Clinical; Genetic counseling; Genetics; Postnatal; Prenatal; Review

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; BRAIN FUNCTION; BRAIN MALFORMATION; BRAIN REGION; CHILDHOOD DISEASE; CHROMOSOME ABERRATION; COGNITION; CONGENITAL MALFORMATION; CORPUS CALLOSUM AGENESIS; DIAGNOSTIC VALUE; DISEASE SEVERITY; EXECUTIVE FUNCTION; FALSE POSITIVE RESULT; GENE IDENTIFICATION; GENE REARRANGEMENT; GENETIC COUNSELING; GENETIC DISORDER; HEREDITY; HUMAN; INTELLECTUAL IMPAIRMENT; INTRAUTERINE INFECTION; LEARNING DISORDER; MEDICAL DECISION MAKING; NERVE CELL PLASTICITY; NEUROANATOMY; PERINATAL PERIOD; PRENATAL DIAGNOSIS; PRENATAL PERIOD; PRIORITY JOURNAL; SKILL; AGENESIS OF CORPUS CALLOSUM; ANIMAL; GENETICS; PRACTICE GUIDELINE;

AGENESIS OF CORPUS CALLOSUM; ANIMALS; GENETIC COUNSELING; HUMANS; PRACTICE GUIDELINES AS TOPIC; PRENATAL DIAGNOSIS;

EID: 84902438904     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31405     Document Type: Article

References (34)

1. Aboitiz F, Montiel J. 2003. One hundred million years of interhemispheric communication: The history of the corpus callosum. Braz J Med Biol Res 36:409-420.
2. Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG. 2013. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet 92:392-400.
3. Badaruddin DH, Andrews GL, Bölte S, Schilmoeller KJ, Schilmoeller G, Paul LK, Brown WS. 2007. Social and behavioral problems of children with agenesis of the corpus callosum. Child Psychiatry Hum Dev 38:287-302.
4. Bedeschi MF, Bonaglia MC, Grasso R, Pellegri A, Garghentino RR, Battaglia MA, Panarisi AM, Di Rocco M, Balottin U, Bresolin N, Bassi MT, Borgatti R. 2006. Agenesis of the corpus callosum: Clinical and genetic study in 63 young patients. Pediatr Neurol 34:186-193.
5. Bennett GL, Bromley B, Benacerraf BR. 1996. Agenesis of the corpus callosum: Prenatal detection usually is not possible before 22 weeks of gestation. Radiology 199:447-450.
6. Bloom JS, Hynd GW. 2005. The role of the corpus callosum in interhemispheric transfer of information: Excitation or inhibition? Neuropsychol Rev 15:59-71.
7. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. 2012. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921-1929.
8. Dobyns WB. 1996. Absence makes the search grow longer. Am J Hum Genetic 58:7-16.
9. Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. 2014. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain [Epub ahead of print]. DOI: 10.1093/brain/awt358
10. Frazier TW, Hardan AY. 2009. A meta-analysis of the corpus callosum in autism. Biol Psychiatry 66:935-941.
11. Glass HC, Shaw GM, Ma C, Sherr EH. 2008. Agenesis of the corpus callosum in California 1983-2003: A population-based study. Am J Med Genet Part A 146A:2495-2500.
12. Grogono JL. 1968. Children with agenesis of the corpus callosum. Dev Med Child Neurol 10:613-616.
13. Hinkley LB, Marco EJ, Findlay AM, Honma S, Jeremy RJ, Strominger Z, Bukshpun P, Wakahiro M, Brown WS, Paul LK, Barkovich AJ, Mukherjee P, Nagarajan SS, Sherr EH. 2012. The role of corpus callosum development in functional connectivity and cognitive processing. PLoS ONE 7:e39804.
14. Jeret JS, Serur D, Wisniewski K, Fisch C. 1985-1986. Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography. Pediatr Neurosci 12:101-103.
15. Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr EH, Marco EJ. 2013. Autism traits in individuals with agenesis of the corpus callosum. J Autism Dev Disord 43:1106-1118.
16. Moutard ML, Kieffer V, Feingold J, Lewin F, Baron JM, Adamsbaum C, Gélot A, Isapof A, Kieffer F, de Villemeur TB. 2012. Isolated corpus callosum agenesis: A ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?). Prenat Diagn 32:277-283.
17. O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. 2010. Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet Part A 152A:2145-2159.
18. Palmer EE, Peters GB, Mowat D. 2012. Chromosome microarray in Australia: A guide for paediatricians. J Paediatr Child Health 48:E59-E67.
19. Palmer E, Speirs H, Taylor PJ, Mullan G, Turner G, Einfeld S, Tonge B, Mowat D. 2014. Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability. Am J Med Genet Part A 164A:377-385.
20. Paul LK. 2011. Developmental malformation of the corpus callosum: A review of typical callosal development and examples of developmental disorders with callosal involvement. J Neurodev Disord 3:3-27.
21. Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, Sherr EH. 2007. Agenesis of the corpus callosum: Genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci 8:287-299.
22. Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH. 2013. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet 9:e1003823.
23. Salih MA, Tzschach A, Oystreck DT, Hassan HH, AlDrees A, Elmalik SA, El Khashab HY, Wienker TF, Abu-Amero KK, Bosley TM. 2013. A newly recognized autosomal recessive syndrome affecting neurologic function and vision. Am J Med Genet Part A 161A:1207-1213.
24. Santo S, D'Antonio F, Homfray T, Rich P, Pilu G, Bhide A, Thilaganathan B, Papageorghiou AT. 2012. Counseling in fetal medicine: Agenesis of the corpus callosum. Ultrasound Obstet Gynecol 40:513-521.
25. Schaefer GB, Bodensteiner JB. 1992. Evaluation of the child with idiopathic mental retardation. Pediatr Clin North Am 39:929-943.
26. Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H. 2008. Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet Part A 146A:2501-2511.
27. Siffredi V, Anderson V, Leventer RJ, Spencer-Smith MM. 2013. Neuropsychological profile of agenesis of the corpus callosum: A systematic review. Dev Neuropsychol 38:36-57.
28. Sotiriadis A, Makrydimas G. 2012. Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: An integrative review. Am J Obstet Gynecol 206:337. e1-e5.
29. Temtamy SA, Salam MA, Aboul-Ezz EH, Hussein HA, Helmy SA, Shalash BA. 1996. New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia. Clin Dysmorphol 5:231-240.
30. Tovar-Moll F, Moll J, de Oliveira-Souza R, Bramati I, Andreiuolo PA, Lent R. 2007. Neuroplasticity in human callosal dysgenesis: A diffusion tensor imaging study. Cereb Cortex 17:531-541.
31. Volpe P, Paladini D, Resta M, Stanziano A, Salvatore M, Quarantelli M, De Robertis V, Buonadonna AL, Caruso G, Gentile M. 2006. Characteristics associations and outcome of partial agenesis of the corpus callosum in the fetus. Ultrasound Obstet Gynecol 27:509-516.
32. Witelson SF. 1989. Hand and sex differences in the isthmus and genu of the human corpus callosum. A postmortem morphological study. Brain 112:799-835.
33. Young ID. 1995. Genetics of neurodevelopmental abnormalities. In: Levene MI, Lilford RJ, Bennet MJ, Punt J, editors. Fetal and neonatal neurology and neurosurgery. London: Churchill Livingstone. p256.
34. Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS. 2013. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. Am J Hum Genet 92:387-391.