Two neighboring microdeletions of 5q13.2 in a child with oculo-auriculo-vertebral spectrum

European Journal of Medical Genetics

Volumn 53, Issue 3, 2010, Pages 153-158

  Huang, Xue shuang ^a,b   Xiao, Ling ^a   Li, Xin ^c   Xie, Yufang ^d   Jiang, Hai ou ^b   Tan, Can ^a   Wang, Lei ^c   Zhang, Jian xiang ^a,e  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b Huaihua School of Medicine   (China)

^c Chinese Academy of Sciences   (China)

^d Maternity and Children Health Care Hospital of Luohu District   (China)

^e CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

5q13.2; Copy number variation; Hemivertebrae; Multiple craniofacial anomaly

Indexed keywords

BIOLOGICAL MARKER; BIR1C PROTEIN; OCLN PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATRESIA; CASE REPORT; CHILD; CHROMOSOME 5Q; CHROMOSOME DELETION; CONDUCTION DEAFNESS; CONTROLLED STUDY; COPY NUMBER VARIATION; EXTERNAL EAR CANAL ATRESIA; FOLLOW UP; GOLDENHAR SYNDROME; HEMIFACIAL MICROSOMIA; HUMAN; MACROSTOMIA; MALE; MANDIBLE HYPOPLASIA; NUCLEOTIDE SEQUENCE; PATENT DUCTUS ARTERIOSUS; PATENT FORAMEN OVALE; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; VERTEBRA MALFORMATION; BRAIN; CHROMOSOME 5; CHROMOSOME BANDING PATTERN; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL ABNORMALITIES; GENE DELETION; GENE DOSAGE; GENETICS; KARYOTYPING; PATHOLOGY; PHENOTYPE; PROCEDURES; ULTRASTRUCTURE;

BRAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 5; CONGENITAL ABNORMALITIES; GENE DELETION; GENE DOSAGE; GOLDENHAR SYNDROME; HUMANS; KARYOTYPING; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 77952012563     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.03.004     Document Type: Article

References (28)

1. Ala-Mello S., Siggberg L., Knuutila S., von Koskull H., Taskinen M., and Peippo M. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. Am. J. Med. Genet. A 146A (2008) 2490-2494
2. Arkblad E., Tulinius M., Kroksmark A.K., Henricsson M., and Darin N. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatr. 98 (2009) 865-872
3. Balci S., Engiz O., Yilmaz Z., and Baltaci V. Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22). Genet. Couns. 17 (2006) 281-289
4. Blauw H.M., Veldink J.H., van Es M.A., van Vught P.W., Saris C.G., van der Zwaag B., et al. Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen. Lancet Neurol. 7 (2008) 319-326
5. Callier P., Faivre L., Thauvin-Robinet C., Marle N., Mosca A.L., D'Athis P., et al. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome. Am. J. Med. Genet. A 146A (2008) 2109-2115
6. Choong Y.F., Watts P., Little E., and Beck L. Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?. J. AAPOS 7 (2003) 226-227
7. Courseaux A., Richard F., Grosgeorge J., Ortola C., Viale A., Turc-Carel C., et al. Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation. Genome Res. 13 (2003) 369-381
8. Derbent M., Yilmaz Z., Baltaci V., Saygili A., Varan B., and Tokel K. Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am. J. Med. Genet. A 116A (2003) 129-135
9. Descartes M. Oculoauriculovertebral spectrum with 5p15.33-pter deletion. Clin. Dysmorphol. 15 (2006) 153-154
10. Fan Y.S., Jayakar P., Zhu H., Barbouth D., Sacharow S., Morales A., et al. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum. Mutat. 28 (2007) 1124-1132
11. Fischer S., Lüdecke H.J., Wieczorek D., Böhringer S., Gillessen-Kaesbach G., and Horsthemke B. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum. Mol. Genet. 15 (2006) 581-587
12. Gu J.M., Lim S.O., Park Y.M., and Jung G. A novel splice variant of occludin deleted in exon 9 and its role in cell apoptosis and invasion. FEBS J. 275 (2008) 3145-3156
13. Inoue K., and Lupski J.R. Molecular mechanisms for genomic disorders. Annu. Rev. Genomics Hum. Genet. 3 (2002) 199-242
14. Jedrzejowska M., Milewski M., Zimowski J., Borkowska J., Kostera-Pruszczyk A., Sielska D., et al. Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease. Acta Biochim. Pol. 56 (2009) 1-6
15. Josifova D.J., Patton M.A., and Marks K. Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement. Clin. Dysmorphol. 13 (2004) 151-153
16. Kaye C.I., Martin A.O., Rollnick B.R., Nagatoshi K., Israel J., Hermanoff M., et al. Oculoauriculovertebral anomaly: segregation analysis. Am. J. Med. Genet. 43 (1992) 913-917
17. Kelberman D., Tyson J., Chandler D.C., McInerney A.M., Slee J., Albert D., et al. Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Hum. Genet. 109 (2001) 638-645
18. Knijnenburg J., Oberstein S.A., Frei K., Lucas T., Gijsbers A.C., Ruivenkamp C.A., et al. A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents. J. Med. Genet. 46 (2009) 412-417
19. Kumar D. Disorders of the genome architecture: a review. Genomic Med. 2 (2008) 69-76
20. Ou Z., Martin D.M., Bedoyan J.K., Cooper M.L., Chinault A.C., Stankiewicz P., et al. Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. Am. J. Med. Genet. A 146A (2008) 2480-2489
21. Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., et al. Global variation in copy number in the human genome. Nature 444 (2006) 444-454
22. Sebat J., Lakshmi B., Troge J., Alexander J., Young J., Lundin P., et al. Large-scale copy number polymorphism in the human genome. Science 305 (2004) 525-528
23. Shaffer L.G., Slovak M.L., Campbell L.J., and ISCN. An International System for Human Cytogenetic Nomenclature (2009), S. Karger, Basel
24. Shaffer L.G., Theisen A., Bejjani B.A., Ballif B.C., Aylsworth A.S., Lim C., et al. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet. Med. 9 (2007) 607-616
25. Stefansson H., Rujescu D., Cichon S., Pietiläinen O.P., Ingason A., Steinberg S., et al. Large recurrent microdeletions associated with schizophrenia. Nature 455 (2008) 232-236
26. Tasse C., Böhringer S., Fischer S., Lüdecke H.J., Albrecht B., Horn D., et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur. J. Med. Genet. 48 (2005) 397-411
27. Vendramini-Pittoli S., and Kokitsu-Nakata N.M. Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin. Dysmorphol. 18 (2009) 67-77
28. Xu J., Fan Y.S., and Siu V.M. A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome?. Am. J. Med. Genet. A 146A (2008) 1886-1889