Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

American Journal of Medical Genetics, Part A

Volumn 155, Issue 8, 2011, Pages 1857-1864

  Kuechler, Alma ^a   Buysse, Karen ^b   Clayton Smith, Jill ^c   Le Caignec, Cédric ^d,e   David, Albert ^d   Engels, Hartmut ^f   Kohlhase, Jürgen ^g   Mari, Francesca ^h   Mortier, Geert ^b,i   Renieri, Alessandra ^h   Wieczorek, Dagmar ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c ST MARY S HOSPITAL   (United Kingdom)

^d NANTES UNIVERSITY HOSPITAL   (France)

^e L INSTITUT DU THORAX   (France)

^f UNIVERSITY OF BONN   (Germany)

^g Praxis fur Humangenetik   (Germany)

^h UNIVERSITY OF SIENA   (Italy)

ⁱ ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Diaphragmatic hernia; Facial dysmorphism; Mental retardation; Microdeletion 8q22.2q22.3; Molecular karyotyping; Seizures

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; CHILD; CHROMOSOME 8Q; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; CLINICAL FEATURE; COH1 GENE; COHEN SYNDROME; CONGENITAL DIAPHRAGM HERNIA; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EPICANTHUS; FACE MALFORMATION; FACIAL EXPRESSION; FEMALE; GENE; GENOTYPE; HIATUS HERNIA; HUMAN; INTERSTITIAL CHROMOSOME DELETION; LIP; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MICROCEPHALY; MOUTH; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SHORT STATURE; SPEECH DISORDER; SYNDROME; TELECANTHUS; ZFPM2 GENE; ZYGOMA;

ABNORMALITIES, MULTIPLE; BLEPHAROPHIMOSIS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 8; COFFIN-LOWRY SYNDROME; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; FACE; FEMALE; FINGERS; GENE DELETION; GENETIC ASSOCIATION STUDIES; HERNIA, DIAPHRAGMATIC; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPING; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; MYOPIA; OBESITY; SEIZURES; YOUNG ADULT;

EID: 79960559049     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34072     Document Type: Article

References (26)

1. Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR. 2005. Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet 1:58-65.
2. Balikova I, Lehesjoki AE, de Ravel TJ, Thienpont B, Chandler KE, Clayton-Smith J, Träskelin AL, Fryns JP, Vermeesch JR. 2009. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Hum Mutat 30:E845-E854.
3. Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E. 2008. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet 16:18-27.
4. Bleyl SB, Moshrefi A, Shaw GM, Saijoh Y, Schoenwolf GC, Pennacchio LA, Slavotinek AM. 2007. Candidate genes for congenital diaphragmatic hernia from animal models: Sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients. Eur J Hum Genet 15:950-958.
5. Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB. 2008. Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. Am J Med Genet Part A 146A:2221-2226.
6. Dallapiccola B, Santoro L, Trabace S, Ramenghi M, Mastroiacovo P, Gandini E. 1977. Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213). Hum Genet 38:125-130.
7. Donahue ML, Ryan RM. 1995. Interstitial deletion of 8q21→22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant. Am J Med Genet 56:97-100.
8. Fryns JP, Logghe N, Van Eygen M, Van Der Berghe H. 1979. Interstitial deletion of the long arm of chromosome 8. Karyotype: 46, XY, del(8)(q21). Hum Genet 48:127-130.
9. Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA. 2007. Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet 80:825-845.
10. Howe DT, Kilby MD, Sirry H, Barker GM, Roberts E, Davison EV, Mchugo J, Whittle MJ. 1996. Structural chromosome anomalies in congenital diaphragmatic hernia. Prenat Diagn 16:1003-1009.
11. Jain S, Yang P, Farrell SA. 2010. A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype. Eur J Med Genet 53:108-110.
12. Kolehmainen J, Black GCM, Saarinen A, Chandler K, Clayton-Smith J, Traskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. 2003. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet 72:1359-1369.
13. Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR. 2006. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of published reports. Med Genet 43:625-633.
14. Orye E, Craen M. 1983. Partial long arm deletion of chromosome 8 (pter→q13::q22→qter) without Langer-Giedion syndrome. Ann Genet (Paris) 26:44-46.
15. Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I. 2009. The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature. Eur J Med Genet 52:140-144.
16. Rivera H, Rodríguez RM, Plascencia ML, Martínez y, Martínez R, Nazara Z, Cantu JM. 1983. Del (8) (q212q2200) de novo in a boy without Langer-Giedion syndrome. J Genet Hum 31:413-418.
17. Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M. 2011. Cohen syndrome diagnosis using whole genome arrays. J Med Genet 48:136-140 [Epub 2010 Oct 4].
18. Salinas M, Duprat F, Heurteaux C, Hugnot JP, Lazdunski M. 1997. New modulatory alpha subunits for mammalian Shab K+ channels. J Biol Chem 272:24371-24379.
19. Salpietro CD, Briuglia S, Rigoli L, Merlino MV, Dallapiccola B. 2003. Confirmation of Nablus mask-like facial syndrome. Am J Med Genet Part A 121A:283-285.
20. Schinzel A. 2001. Catalogue of unbalanced chromosome aberrations in man, 2nd edition. Berlin, New York: De Gruyter.
21. Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE. 2006. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. Am J Med Genet Part A 140:1267-1273.
22. Slavotinek AM. 2008. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 124:1-17.
23. Taysi K, Noetzel MJ, Strauss AW. 1979. Presumptive long arm deletion of chromosome 8: A new syndrome? Hum Genet 51:49-53.
24. Teebi AS. 2000. Nablus mask-like facial syndrome. Am J Med Genet Part A 95:407-408.
25. Temple IK, Barber JC, James RS, Burge D. 1994. Diaphragmatic herniae and translocations involving 8q22 in two patients. J Med Genet 31:735-737.
26. Vissers LE, de Vries BB, Veltman JA. 2010. Genomic microarrays in mental retardation: From copy number variation to gene, from research to diagnosis. J Med Genet 47:289-297.