Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma

American Journal of Medical Genetics, Part A

Volumn 173, Issue 5, 2017, Pages 1390-1395

  Ji, Jianling ^a,b   Quindipan, Catherine ^a   Parham, David ^b   Shen, Lishuang ^a   Ruble, David ^a   Bootwalla, Moiz ^a   Maglinte, Dennis T ^a   Gai, Xiaowu ^a,b   Saitta, Sulagna C ^a,b   Biegel, Jaclyn A ^a,b   Mascarenhas, Leo ^a,b  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

ATR X syndrome; cancer predisposition syndrome; chromosomal microarray; intellectual disability; osteosarcoma; tumor; whole exome sequencing

Indexed keywords

CYTOKERATIN 20; MYOD1 PROTEIN; ATRX PROTEIN, HUMAN; DNA HELICASE; NUCLEAR PROTEIN;

ABOVE KNEE AMPUTATION; ADOLESCENT; ALPHA THALASSEMIA; AMBIGUOUS GENITALIA; ANEMIA; AORTIC COARCTATION; ARMENIAN (PEOPLE); ARTICLE; ATRX GENE; BICUSPID AORTIC VALVE; BLOOD SAMPLING; BODY DYSMORPHIC DISORDER; BONE TISSUE; BRAIN TUMOR; CANCER CHEMOTHERAPY; CANCER RISK; CAREGIVER; CASE REPORT; CELL DIFFERENTIATION; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COARSE FACE; COGNITIVE DEFECT; CRYPTORCHISM; CYTOPLASM; DISEASE ASSOCIATION; DISEASE COURSE; DNA MICROARRAY; FAMILY HISTORY; FIBROSARCOMA; GENE; GENETIC DISORDER; GENETIC SCREENING; GERMLINE MUTATION; HETEROZYGOTE; HISTOLOGY; HOSPITALIZATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTELORISM; IMMUNOHISTOCHEMISTRY; IMMUNOPHENOTYPING; INTELLECTUAL IMPAIRMENT; KARYOTYPE; LUNG METASTASIS; MALE; MICROCEPHALY; MICROCYTIC ANEMIA; MICROPENIS; MOUTH MALFORMATION; ORTHOPEDIC SURGEON; OSTEOSARCOMA; PALLIATIVE THERAPY; PATHOGENICITY; PHENOTYPE; PRIMARY TUMOR; PROTEIN EXPRESSION; RADIODIAGNOSIS; ROSETTE FORMATION; SANGER SEQUENCING; SOMATIC MUTATION; STELLATE CELL; WHOLE EXOME SEQUENCING; X CHROMOSOME LINKED DISORDER; X LINKED ALPHA THALASSEMIA INTELLECTUAL DISABILITY SYNDROME; X RAY ANALYSIS; ADULT; COMPLICATION; EXOME; FEMALE; GENETICS; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; SIBLING; X LINKED MENTAL RETARDATION;

ADOLESCENT; ADULT; ALPHA-THALASSEMIA; BASE SEQUENCE; DNA HELICASES; EXOME; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MENTAL RETARDATION, X-LINKED; NUCLEAR PROTEINS; OSTEOSARCOMA; PEDIGREE; SIBLINGS;

EID: 85017376734     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38184     Document Type: Article

References (23)

1. Biegel, J. A., Womer, R. B., & Emanuel, B. S. (1989). Complex karyotypes in a series of pediatric osteosarcomas. Cancer Genetics and Cytogenetics, 38(1), 89–100.
2. Brett, M., McPherson, J., Zang, Z. J., Lai, A., Tan, E. S., Ng, I., … Tan, E. C. (2014). Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel. Public Library of Science, 9(4), e93409.
3. Calvert, G. T., Randall, R. L., Jones, K. B., Cannon-Albright, L., Lessnick, S., & Schiffman, J. D. (2012). At-risk populations for osteosarcoma: The syndromes and beyond. Sarcoma, 2012, 152382.
4. Chen, X., Bahrami, A., Pappo, A., Easton, J., Dalton, J., Hedlund, E., … Dyer, M. A. (2014). Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. Cell Reports, 7(1), 104–112.
5. Clynes, D., & Gibbons, R. J. (2013). ATRX and the replication of structured DNA. Current Opinion in Genetics and Development, 23(3), 289–294.
6. Clynes, D., Higgs, D. R., & Gibbons, R. J. (2013). The chromatin remodeller ATRX: A repeat offender in human disease. Trends in Biochemical Sciences, 38(9), 461–466.
7. Episkopou, H., Draskovic, I., Van Beneden, A., Tilman, G., Mattiussi, M., Gobin, M., … Decottignies, A. (2014). Alternative Lengthening of Telomeres is characterized by reduced compaction of telomeric chromatin. Nucleic Acids Research, 42(7), 4391–4405.
8. Garrison E., Marth G. 2012. Haplotype-based variant detection from short-read sequencing arXiv preprint arXiv. 1207.3907.
9. Gibbons, R. J., & Higgs, D. R. (2000). Molecular-clinical spectrum of the ATR-X syndrome. American Journal of Medical Genetics, 97(3), 204–212.
10. Gibbons, R. J., Picketts, D. J., Villard, L., & Higgs, D. R. (1995). Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell, 80(6), 837–845.
11. Heaphy, C. M., de Wilde, R. F., Jiao, Y., Klein, A. P., Edil, B. H., Shi, C., … Meeker, A. K. (2011). Altered telomeres in tumors with ATRX and DAXX mutations. Science, 333(6041), 425.
12. Li H. 2013. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM arXiv preprint arXiv:1303.3997.
13. Lovejoy, C. A., Li, W., Reisenweber, S., Thongthip, S., Bruno, J., de Lange, T. … Consortium ALTSC (2012). Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway. PLoS Genetics, 8(7), e1002772.
14. O'Sullivan, R. J., & Almouzni, G. (2014). Assembly of telomeric chromatin to create ALTernative endings. Trends in Cell Biology, 24(11), 675–685.
15. O'Sullivan, R. J., Arnoult, N., Lackner, D. H., Oganesian, L., Haggblom, C., Corpet, A., & Karlseder, J. (2014). Rapid induction of alternative lengthening of telomeres by depletion of the histone chaperone ASF1. Nature Structural and Molecular Biology, 21(2), 167–174.
16. Perry, J. A., Kiezun, A., Tonzi, P., Van Allen, E. M., Carter, S. L., Baca, S. C., … Janeway, K. A. (2014). Complementary genomic approaches highlight the PI3 K/mTOR pathway as a common vulnerability in osteosarcoma. Proceedings of the National Academy of Sciences of the United States of America, 111(51), E5564–E5573.
17. Picketts, D. J., Higgs, D. R., Bachoo, S., Blake, D. J., Quarrell, O. W., & Gibbons, R. J. (1996). ATRX encodes a novel member of the SNF2 family of proteins: Mutations point to a common mechanism underlying the ATR-X syndrome. Human Molecular Genetics, 5(12), 1899–1907.
18. Ramamoorthy, M., & Smith, S. (2015). Loss of ATRX suppresses resolution of telomere cohesion to control recombination in ALT cancer cells. Cancer Cell, 28(3), 357–369.
19. Ratnakumar, K., & Bernstein, E. (2013). ATRX: The case of a peculiar chromatin remodeler. Epigenetics, 8(1), 3–9.
20. Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., … Committee, A. L. Q. A. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405–424.
21. Villard, L., Toutain, A., Lossi, A. M., Gecz, J., Houdayer, C., Moraine, C., & Fontes, M. (1996). Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia. American Journal of Human Genetics, 58(3), 499–505.
22. Wada, T., Kubota, T., Fukushima, Y., & Saitoh, S. (2000). Molecular genetic study of Japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). American Journal of Medical Genetics, 94(3), 242–248.
23. Wiestler, B., Capper, D., Holland-Letz, T., Korshunov, A., von Deimling, A., Pfister, S. M., Platten, M., … Wick, W. (2013). ATRX loss refines the classification of anaplastic gliomas and identifies a subgroup of IDH mutant astrocytic tumors with better prognosis. Acta Neuropathologica, 126(3), 443–451.