Update on the Toriello–Carey syndrome

American Journal of Medical Genetics, Part A

Volumn 170, Issue 10, 2016, Pages 2551-2558

  Toriello, Helga V ^a,b   Colley, Chelsey ^b   Bamshad, Michael ^c  

^a MICHIGAN STATE UNIVERSITY   (United States)

^b MICHIGAN STATE UNIVERSITY   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

agenesis corpus callosum; clinical heterogeneity; Pierre Robin anomaly; syndrome delineation

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN MALFORMATION; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLEFT PALATE; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; FACIES; FEEDING DIFFICULTY; FUNNEL CHEST; GENITAL MALFORMATION; GROWTH DISORDER; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HUMAN; KARYOTYPE; MICROARRAY ANALYSIS; MICROGNATHIA; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SINGLE NUCLEOTIDE POLYMORPHISM; TORIELLO CAREY SYNDROME; AGENESIS OF CORPUS CALLOSUM; CRANIOFACIAL ABNORMALITIES; FEMALE; GENETIC ASSOCIATION STUDY; GENETICS; HEART DEFECTS, CONGENITAL; LIMB DEFORMITIES, CONGENITAL; MALE; PIERRE ROBIN SYNDROME; UROGENITAL ABNORMALITIES;

AGENESIS OF CORPUS CALLOSUM; CHROMOSOME ABERRATIONS; CRANIOFACIAL ABNORMALITIES; FEMALE; GENETIC ASSOCIATION STUDIES; HEART DEFECTS, CONGENITAL; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; PHENOTYPE; PIERRE ROBIN SYNDROME; UROGENITAL ABNORMALITIES;

EID: 84987949522     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37735     Document Type: Article

References (38)

1. Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Desir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G. 2014. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet 133:939–949.
2. Becker K, Di Donato N, Holder-Espinasse M, Andriex J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K. 2012. De novo microdeletions of chromosome 6q14. 1-q14. 3 and 6q12. 1- q14. 1 in two patients with intellectual disability- further delineation of the 6q14 microdeletion syndrome and review of the literature. Eur J Med Genet 55:490–497.
3. Biesecker LG, Green RC. 2014. Diagnostic clinical genome and exome sequencing. N Eng J Med 370:2418–2425.
4. Bosson C, Devillard F, Satre V, Dieterich K, Ray PF, Morand B, Dubois-Teklali F, Vieville G, Andrieux J, Brouillet S, Amblard F, Jouk PS, Coutton C. 2016. Microdeletion del(22)(q12.1) excluding the MN1 gene in a patients with craniofacial anomalies. Am J Med Genet Part A 170A:498–503.
5. Braddock SR, Carey JC. 1994. A new syndrome: Congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies, and developmental delay. Clin Dysmorph 3:75–81.
6. Chinen Y, Kaname T, Yanagi K, Saito N, Naritomi K, Ohta T. 2006. Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). Am J Med Genet Part A 140A:1655–1657.
7. De Ravel T, Balikova I, Van Driessche J, Vermeesch J, Fryns J-P. 2009. Opitz C syndrome and pseudohypoaldosteronism” is caused by a chromosome 4q deletion. Am J Med Genet Part A 149A:1315–1316.
8. El-Chammas KI, Venkatasubramani N, Veith R, Sekhri N, Rhead W, Toriello HV, Goday PS. 2012. Pancreatic insufficiency in Toriello-Carey syndrome: Report of a second patient. Am J Med Genet Part A 158A:1208–1211.
9. Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, Huber AR, Neinimann K, Miny P. 2010. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype- genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. Am J Med Genet Part A 152A:987–993.
10. Graham JM, Jr, Wheller P, Tackels-Horne D, Lin AE, Hall BD, May M, Short KM, Schwartz CE, Cox TC. 2003. A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. Am J Med Genet Part A 123A:37–44.
11. Isidor B, Winer N, Joubert M, Boisseau P, Le Caignec C, Bocéno M, Fallet C, David A, Rival JM. 2008. Inherited 18q23 duplication in a fetus with multiple congenital anomalies. Eur J Med Genet 51:231–238.
12. Izumi K, Brooks SS, Feret HA, Zackai EH. 2012. 1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: Dissecting the phenotype. Am J Med Genet Part A 158A:535–1541.
13. Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K-I, Niikawa N, Naritomi K. 2007. Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet 81:835–841.
14. Kataoka TR, Ito A, Nakabori T, Koma Y-I, Nakai H, Kamata S, Kitamura Y. 2003. Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus. Am J Med Genet Part A 120A:537–541.
15. Khabbaze Y, Karayalcin G, Paley C, Shende A, Valderrama E, Lipton JM. 2001. Thrombocytopenia absent corpus callosum syndrome: Third case of a distinct clinical entity. J Pediatr Hematol/Oncol 23:469–471.
16. Lacombe D, Creusot G, Battin J. 1992. New case of Toriello-Carey syndrome. Am J Med Genet 42:374–376.
17. Maretti MB, Haddad AS, Ferrira MCD, Guaré Rde O, Alonso LG. 2011. Toriello Carey syndrome: Genetic, clinical and oral considerations: A case report. Spec Care Dentist 31:68–72.
18. Martin-Denavit T, Till M, Plauchu H. 2004. Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22). Am J Med Genet Part A 128A:219–221.
19. McGaughran J, Aftimos S, Oei P. 2000. Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome. Am J Med Genet 94:311–315.
20. McGoey R, Varma A, Lacassie Y. 2010. Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity. Am J Med Genet Part A 152A:3068–3073.
21. Mousavi SA. 2008. Toriello-Carey syndrome—a report of two new cases with additional findings. Arch Med Sci 3:349–351.
22. Opitz JM, Putnam AR, Comstock JM, Chin S, Byrne JLB, Kennedy A, Frikke MJ, Bernard C, Albrecht S, Der Kaloustian V, Szakacs JG. 2006. Mortality and pathological findings in C (Opitz trigonocephaly) syndrome. Fetal Pediatr Pathol 25:211–231.
23. Özkan H, Çetinkaya M, Koksal N, Yapici S. 2011. Severe fetal valproate syndrome: Combination of complex cardiac defect, multicystic dysplastic kidney, and trigonocephaly. J Matern Fetal Neonatal Med 24:521–524.
24. Phadke SR, Patil SJ. 2004. Partial trisomy 13 with features similar to “C” syndrome. Indian Pediatr 41:614–617.
25. Said E, Cuschieri A, Vermeesch J, Fryns JP. 2011. Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH. Am J Med Genet Part A 155A:1390–1392.
26. Sargent C, Burn J, Baraitser M, Pembrey ME. 1985. Trigonocephaly and the Opitz C syndrome. J Med Genet 22:39–45.
27. Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzenbruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Chardon JW, Chitayat D, Deladoey J, Fernandez BA, Frisk P, Geraghty MT, Geruli B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza- Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR, FORGE Canada Consortium, Majewski J, Boycott KM. 2016. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care. Clin Genet 89:275–284.
28. Sensi A, Prontera P, Buldrini B, Palma S, Aiello V, Gruppioni R, Calzolari E, Volinia S, Martini A. 2007. Cytogenetic and assay CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q- phenotype. Am J Med Genet Part A 146A:110–115.
29. Stevenson DA, Carey JC. 2007. New syndrome: A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters. Am J Med Genet Part A 143A:2221–2226.
30. Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G, Stanyon R, Toriello HV, Hatchwell E. 2009. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46, XY, t(2;14)(q33;q22)] interrupting SATB2. Clin Genet 75:259–264.
31. Till M, Bourgeois J, Plauchu H. 1997. Letter to the editor: Toriello-Carey syndrome. Am J Med Genet 70:332.
32. Toriello HV, Carey JC. 1988. Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: A new autosomal recessive syndrome? Am J Med Genet 31:17–23
33. Toriello HV, Carey JC, Addor M-C, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Mira I, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald- McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. 2003. Toriello-Carey syndrome: Delineation and review. Am J Med Genet Part A 123A:84–90.
34. Toriello HV, Hatchwell E. 2008. Toriello-Carey syndrome phenotype and chromosome abnormalities. Am J Med Genet Part A 146A:116.
35. Uras N, Sandal G, Oguz S, Aydemir O, Erdeve O, Dilmen U. 2009. Toriello-Carey syndrome in a Turkish newborn. Genet Couns 20:243–247.
36. Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Corman B, Vilageliu L, Balcells S, Grinberg D. 2016. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. Am J Med Genet Part A 170A:24–31.
37. Yokoo N, Marumo C, Nishida Y, Lio J, Maeda S, Nonaka M, Maihara T, Chujoh S, Katayama T, Sakazaki H, Natsumoto N, Okamoto N. 2013. A case of Toriello-Carey syndrome with severe congenital tracheal stenosis. Am J Med Genet Part A 161A:2291–2293.
38. Zarate YA, Perry H, Ben-Omran T, Sellars EA, Stein Q, Almureikhi M, simmons K, Klein O, Fish J, Feingold M, Doublas J, Druer MC, Si Y, Mao R, McKnight D, Gibellini F, Retterer K, Slavotinek A. 2015. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Am J Med Genet Part A 167A:1026–1032.