A patient with Baller-Gerold Syndrome and midline NK/T Lymphoma

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 755-759

  Debeljak, Marusa ^a   Zver, Aleksandra ^a   Jazbec, Janez ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

Author keywords

Baller Gerold syndrome; Cancer; Midline NK T cell lymphoma; RECQL4; Rothmund Thomson syndrome

Indexed keywords

CYCLOPHOSPHAMIDE; MESSENGER RNA; METHYLPREDNISOLONE; VINCRISTINE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BALLER GEROLD SYNDROME; CANCER CHEMOTHERAPY; CANCER RADIOTHERAPY; CASE REPORT; CHILD; CHROMOSOME DELETION; CLINICAL FEATURE; DISEASE COURSE; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; LEUKOCYTE; MIDLINE NK T CELL LYMPHOMA; MULTIPLE CYCLE TREATMENT; NK T CELL LYMPHOMA; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RARE DISEASE; RNA ANALYSIS; ROTHMUND THOMSON SYNDROME; SCHOOL CHILD;

ALLELES; BASE SEQUENCE; CHILD; CODON, NONSENSE; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HUMANS; LIMB DEFORMITIES, CONGENITAL; LYMPHOMA, T-CELL; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PHENOTYPE; RECQ HELICASES; ROTHMUND-THOMSON SYNDROME; SEQUENCE DELETION; SYNDROME; TWIST TRANSCRIPTION FACTOR;

EID: 63749107674     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32736     Document Type: Article

References (15)

1. Dietschy T, Shevelev I, Stagljar I. 2007. The molecular role of the Rothmund-Thomson-, RAPADILINO-and Baller-Gerold-gene product, RECQ L4: Recent progress. Cell Mol Life Sci 64:796-802.
2. el-Khoury JM, Haddad SN, Atallah NG. 1997. Osteosarcomatosis with Rothmund-Thomson syndrome. Br J Radiol 70:215-218.
3. Kellermayer R. 2006. The versatile RECQL4. Genet Med 8:213-216.
4. Kellermayer R, Siitonen HA, Hadzsiev K, Kestila M, Kosztolányi G. 2005. A patient with Rothmund-Thomson syndrome and all features of RAPA-DILINO. Arch Dermatol 141:612-617.
5. Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A. 1999a. Rothmund-Thomson syndrome responsible gene, RECQ L4: Genomic structure and products. Genomics 61:268-276.
6. Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y. 1999b. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 22:82-84.
7. Larizza L, Magnani I, Roversi G. 2006. Rothmund-Thomson syndrome and RECQL4 defect: Splitting and lumping. Cancer Lett 232:107-120.
8. Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S. 2000. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet 90:223-228.
9. Seto ML, Lee SJ, Sze RW, Cunningham ML. 2001. Another TWIST on Baller-Gerold syndrome. Am J Med Genet 104:323-330.
10. Siitonen HA, Kopra O, Kääriäinen H, Haravuori H, Winter RM, Säämänen AM, Peltonen L, Kestilä M. 2003. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Hum Mol Genet 12:2837-2844.
11. Sznajer Y, Siitonen HA, Roversi G, Dangoisse C, Scaillon M, Ziereisen F, Tenoutasse S, Kestilä M, Larizza L. 2008. Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes. Eur J Pediatr 167:175-181.
12. Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestila M, Gillerot Y, Mégarbané A, Verloes A. 2006. Revisiting the craniosynostosis- radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet 43:148-152.
13. Vennos EM, James WD. 1995. Rothmund-Thomson syndrome. Dermatol Clin 13:143-150.
14. Wang LL, Worley K, Gannavarapu A, Chintagumpala MM, Levy ML, Plon SE. 2002. Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet 71:165-167.
15. Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE. 2003. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst 95:669-674.