A microdeletion syndrome due to a 3-Mb deletion on 19q13.2 - Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

Clinical Genetics

Volumn 55, Issue 6, 1999, Pages 487-492

  Cario, Holger ^a   Bode, H ^b   Gustavsson, P ^b   Dahl, N ^b   Kohne, E ^b  

^a UNIVERSITY HOSPITAL ULM   (Germany)

^b NONE

Author keywords

Chromosome 19q13; Diamond Blackfan anemia; Erythropoiesis; FG syndrome; Hypotonia; X linked mental retardation

Indexed keywords

PREDNISOLONE;

ARTICLE; BLACKFAN DIAMOND ANEMIA; BLOOD TRANSFUSION; CASE REPORT; CHROMOSOME 19Q; CHROMOSOME DELETION; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HYPERTELORISM; KARYOTYPE; MACROCEPHALY; MALE; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION;

CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; ERYTHROPOIESIS; FANCONI ANEMIA; HUMANS; HYPERTELORISM; INFANT; MALE; MENTAL RETARDATION; PSYCHOMOTOR DISORDERS; SYNDROME;

EID: 0032768765     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.550616.x     Document Type: Article

References (36)

1. Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood, 4th edn. Philadelphia: WB Saunders, 1997: 262-270.
2. Dianzani I, Garelli E, Ramenghi U. Diamond-Blackfan anemia: a congenital defect in erythropoiesis. Haematologica 1996: 81: 560-572.
3. Glader EB, Backer K. Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. Br J Haematol 1988: 68: 165-168.
4. Halperin DS, Freedman MH. Diamond-Blackfan anemia: etiology, pathophysiology, and treatment. Am J Pediatr Hematol Oncol 1989: 11: 380-394.
5. Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC. Diamond-Blackfan anaemia in the UK: analysis of 80 cases from a 20-year birth cohort. Br J Haematol 1996: 94: 645-653.
6. Janov AJ, Leong T, Nathan G, Guinan EC. Diamond-Blackfan anemia. Natural history and sequelae of treatment. Medicine-Baltimore 1996: 75: 77-87.
7. Gustavsson P, Garelli E, Draptchinskaia N, Ball S, Willig TN, Tentler D, Dianzani I, Punnet H, Schafer F, Cario H, Ramenghi U, Glomstein A, Pfeiffer RA, Goringe A, Olivieri NF, Smibert E, Tchernia G, Elinder G, Dahl N. Identification of microdeletions spanning the Diamond Blackfan anemia (DBA) locus on 19q13 and evidence for genetic heterogeneity. Am J Hum Genet 1998: 63: 1388-1395.
8. Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N. Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation. J Med Genet 1997: 34: 779-782.
9. Gustavsson P, Willig TN, van Haeringen A, Tchernia G, Dianzani I, Donner M, Elinder G, Henter JI, Nilsson PG, Gordon L, Skeppner G, van't Veer-Korthof L, Kreuger A, Dahl N. Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1,8 Mb. Nat Genet 1997b: 16: 368-371.
10. Opitz JM, Kaveggia EG. Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilk 1974: 117: 1-18.
11. Fehlow P, Walther F. Progress of a case of FG syndrome (in German). Pädiatr Grenzgeb 1997: 35: 477-480.
12. Opitz JM, Richieri-daCosta A, Aase JM, Benke PJ. FG syndrome update 1988: note of 5 new patients and bibliography. Am J Med Genet 1988: 30: 309-328.
13. Riccardi VM, Hässler E, Lubinsky MS. The FG syndrome: further characterization, report of a third family, and of a sporadic case. Am J Med Genet 1977: 1: 47-58.
14. Romano C, Baraitser M, Thompson EM. A clinical follow-up of British patients with FG syndrome. Clin Dysmorphol 1994: 3: 104-114.
15. Sorge G, Polizzi A, Ruggieri M, Smilari P, Mauceri L. Early fatal course in three brothers with FG syndrome. Clin Pediatr Phila 1996: 35: 365-367.
16. Thompson EM, Baraitser M. FG syndrome. J Med Genet 1987: 24: 139-143.
17. Zwamborn-Hanssen AMN, Schrander-Stumpel CTRM, Smeets E, Dedock P, Fryns JP. FG syndrome: the trias mental retardation, hypotonia and constipation reviewed. Genet Couns 1995: 6: 313-319.
18. Loesch DZ, Hay DA, Sheffield LJ. Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy. Am J Med Genet 1992: 44: 543-550.
19. Piussan C, Mathieu M, Berquin P, Fryns JP. Fragile X mutation and FG syndrome-like phenotype. Am J Med Genet 1996: 64: 395-398.
20. Freire-Maia N, Pinheiro M, Opitz JM. The neurofaciodigitorenal (NFDR) syndrome. Am J Med Genet 1982: 11: 329-336.
21. Stoll C, Géraudel A, Chauvin A. New X-linked syndrome of mental retardation, short stature, and hypertelorism. Am J Med Genet 1991: 39: 474-478.
22. Thompson EM, Gordon A, Baraitser M. X linked mental retardation: a family with a separate syndrome? J Med Genet 1989: 26: 373-378.
23. Bottani A. X-linked syndrome of mental retardation, short stature, and hypertelorism: a new syndrome or a further example of the FG syndrome? Am J Med Genet 1994: 51: 87-88.
24. Briault S, Hill R, Shrimpton A, Zhu D, Till M, Ronce N, Margaritte-Jeannin P, Baraitser M, Middleton-Price H, Malcolm S, Thompson E, Hoo J, Wilson G, Romano C, Guichet A, Pembrey M, Fontes M, Poustka A, Moraine C. A gene for FG syndrome maps in the Xq12-q21.31 region. Am J Med Genet 1997: 73: 87-90.
25. Hilbert M, Hilbert K, Spranger J, Wildhardt G, Winterpacht A, Wüchner C, Zabel B. Hypochondroplasia, achondroplasia and thanatophoric dysplasia caused by mutations of the fibroblast-growth-factor-receptor-3-gene (FGFR3). Monatsschr Kinderheilkd 1998: 146: 687-691.
26. Ashworth LK, Batzer MA, Brandriff B, Branscomb E, De Jong P, Garcia E, Games JA, Gordon LA, Lamerdin JE, Lennon G, Mohrenweiser H, Olsen AS, Slezak T, Carrano AV. An integrated metric physical map of human chromosome 19. Nat Genet 1995: 11: 422-427.
27. Opitz JM, Kaveggia EG, Adkins WN Jr, Gilbert EF, Viseskul C, Pettersen JC, Blumberg B. Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family. Am J Med Genet 1982: 12: 147-154.
28. Richieri-Costa A. FG syndrome in a Brazilian child with additional previously unreported signs. Am J Med Genet 1986: Suppl 2: 247-254.
29. Makitie O, Kaitila I. Cartilage hair hypoplasia: clinical manifestation in 108 Finnish patients. Eur J Fed 1993: 152: 211-217.
30. Sulisalo T, Klockars J, Makitie O, Francomano CA, de-LA-Chapelle A, Kaitila I, Sistonen P. High resolution linkage disequilibrium mapping of the cartilage hair hypoplasia gene. Am J Hum Genet 1994: 55: 937-945.
31. Ghanshani S, Coleman M, Gustavsson P, Chia-Ling-Wu A, Gargus JJ, Gutman GA, Dahl N, Mohrenweiser H, Chandy KG. Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in Diamond-Blackfan anemia. Genomics 1998: 51: 160-161.
32. Levitt RC, Liu Z, Nouri N, Meyers DA, Bradriff B, Mohrenweiser HM. Mapping of the gene for hormone sensitive lipase (LIPE) to chromosome 19q13.1 → q13.2. Cytogenet Cell Genet 1995: 69: 211-214.
33. Koyama M, Ishihara K, Karasuyama H, Cordell JL, Iwamoto A, Nakamura T. CD79 alpha/CD79 beta heterodimers are expressed on pro-B cell surfaces without associated mu heavy chain. Int Immunol 1997: 9: 1767-1772.
34. Bisceglia L, Calonge MJ, Totaro A, Feliubadalo L, Melchionda S, Garcia J, Testar X, Gallucci M, Ponzone A, Zelante L, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacin M. Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet 1997: 60: 611-616.
35. Wartenfeld R, Colomb E, Katz G, Bale SJ, Goldman B, Pras M, Kastner DL, Pras E. Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet. 1997: 60: 617-624.
36. Thompson EM, Baraitser M, Lindenbaum RH, Zaidi ZH, Kroll JS. The FG syndrome: 7 new cases. Clin Genet 1985: 27: 582-594.