Deletion or triplication of the α3(VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders

Clinical Genetics

Volumn 49, Issue 6, 1996, Pages 279-285

  Rauch, A ^a,b   Pfeiffer, R A ^a   Trautmann, U ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Chromosome 2; Collagen type 6; Deletion of 2q37; Disorders of connective tissue; Epiphyseal dysplasia; Joint laxity; Joint stiffness; MR MA syndrome; Triplication of 2q37

Indexed keywords

COLLAGEN;

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 2; CHROMOSOME 2Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CONNECTIVE TISSUE; DYSPLASIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MAPPING; HUMAN; JOINT LAXITY; JOINT STIFFNESS; KARYOTYPE; MALE; METAPHASE CHROMOSOME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0029797658     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb03789.x     Document Type: Article

References (37)

1. Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 1992: 355: 637-638.
2. Boles RG, Pober BR, Gibson LH, Willis CR, McGrath J, Roberts DJ, Yang-Feng TL. Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review. Am J Med Genet 1995: 55: 155-160.
3. Burri M, Tromvoukis Y, Bopp D, Frigerio G, Noll M. Conservation of the paired domain in metazoans and its structure in three isolated human genes. EMBO J 1989: 8: 1183-1190.
4. Coldwell J G, Say B, Carpenter N J. An infant with karyotype 46,XX,del(2)(q37) and severe congenital malformations. Am J Hum Genet 1992: 51: A301.
5. Dahoun-Hadorn S, Bretton-Chapuis B. De novo inversion-duplication of 2q35-2qter without growth retardation. Ann Genet 1992: 35: 55-57.
6. De Grouchy J, Turleau C. Atlas des maladies chromosomiques, 2nd edn. Paris: Expansion Scientifique Française, 1982.
7. Fisher AM, Ellis KH, Browne CE, Barber JCK, Barker M, Kennedy CR, Foley H, Patton MA. Small terminal deletions of the long arm of chromosome 2: two new cases. Am J Med Genet 1994: 53: 366-369.
8. Gardner RJM, Dockery HE, Fitzgerald PH, Parfitt RG, Romain DR, Scobie N, Shaw RL, Tumewu P, Watt AJ. Mosaicism with a normal cell line and an autosomal structural rearrangement. J Med Genet 1994: 31: 108-114.
9. Gorski JL, Cox BA, Kyine M, Uhlmann W, Glover TW. Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37). Am J Med Genet 1989: 32: 350-352.
10. Haag MT, Gilfillan T, Berry R, Hull C, Stewart J, Manchester DK, McGavran L. Microdeletion in chromosome 2qter in two unrelated children with characteristic facies and mental retardation. Am J Hum Genet 1993: 53: Suppl 1571.
11. Harnden DG, Klinger HP (eds). ISCN. An International System for Human Cytogenetic Nomenclature. Basel: Karger, 1985.
12. Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome Type 1 (WS-1). Am J Hum Genet 1993: 52: 455-462.
13. Kyllerman M, Wahlström J, Westerberg B, Gustavson KH. Delineation of a characteristic phenotype in distal trisomy 2q. Helvet Paediatr Acta 1984: 39: 499-508.
14. Lin ShP, Petty EM, Gibson LH, Inserra JA, Seashore MR, Yang-Feng TL. Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy. Am J Med Genet 1992: 44: 500-502-F.
15. Lu-Kuo J, Ward DC, Spritz RA. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, Type 1 (WS 1) locus (PAX3 gene). Genomics 1993: 16: 173-179.
16. Mu Y, Van Dyke DL, Weiss L, Olgac S, De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11.2-q14.2). J Med Genet 1984: 21: 57-71.
17. Oley CA, Wolstenholme J, Coulthard S, Brummitt JA, English CJ, Cross IA, Read AP. Terminal deletions of 2q: is there a consistent phenotype? J Med Genet 1993: 30: 338.
18. Phelan MC, Rogers RC, Byrd LK. Albright hereditary osteodystrophy and del(2)(q37) in two unrelated individuals. Am J Hum Genet (Suppl) 1993: 53: 484.
19. Rack KA, Harris PC, MacCarthy AB, Boone R, Raynham H, Mckinley M, Fitchett M, Towe CM, Rudd P, Armour AL, Lindenbaum LH, Buckle VJ. Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysis. Am J Hum Genet 1993: 52: 987-997.
20. Rauch A, Pfeiffer RA, Trautmann U, Liehr T, Rott HD, Ulmer R. A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH). Clin Genet 1992: 42: 84-90.
21. Richter SB, Lockwood B, Lockwood D, Allanson J. Abnormal chromosome complement resulting from a familial inversion of chromosome 2. J Med Genet 1989: 26: 725-732.
22. Robinson WP, Binkert F, Gine R, Vazquez C, Muller W, Rosenkranz W, Schinzel A. Clinical and molecular analyses of five inv dup(15) patients. Eur J Hum Genet 1993: 1: 37-50.
23. Romain DR, Mackenzie NG, Moss D, Columbano-Green LM, Smythe RH, Parfitt RG, Dixon JW. Partial trisomy for 2q in a patient with dir dup(2)(q33.1q35). J Med Genet 1994: 31: 652-653.
24. Sanchez JM. Deletion 2q syndrome? Letter to the Editor. Am J Med Genet 1988: 25: 453-454.
25. Sanchez JM, Goldschmidt EL. Deletions of 2q: is there a 2q-syndrome? Am J Med Genet 1994: 42: 448-449.
26. Sanchez JM, Pantano AM. A case of deletion 2q35-qter and a peculiar phenotype. J Med Genet 1984: 21: 147-149.
27. Schumacher RE, Rocchini AP, Wilson GN. Partial trisomy 2q. Clin Genet 1983: 23: 191-194.
28. Stokes DG, Saitta B, Timpl R, Chu ML. Human a3(VI) collagen gene. J Biol Chem 1991: 266: 8626-8633.
29. Stratton RF, Tolworthy JA, Young RS. Deletion (2)(q37). Am J Med Genet 1994: 51: 153-155.
30. Strömland K. Eye findings in partial trisomy 2q. Ophthalm Paediatr Genet 1985: 5: 145-150.
31. Tassabehji M, Read AP, Newton VE, Patton M, Gruss P, Harris R, Strachan T. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nature Genet 1993: 3: 26-30.
32. Tsukamoto K, Tohma T. Ohta T, Yamakawa K, Fukushima Y, Nakamura Y, Niikawa N. Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I. Hum Mol Genet 1992: 1: 315-317.
33. Wang TH, Johnston K, Hsieh CL, Dennery PA. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37). Am J Med Genet 1994: 49: 399-401.
34. Waters B L, Allen E F, Gibson P C, Johnston T. Autopsy findings in a severely affected infant with a 2q terminal deletion. Am J Med Genet 1993:47:1099-1103.
35. Wilson L C, Leverton K, M E M Oude Luttikhuis, Oley C A, Flint J, Wolstenholme J, Duckett D P, Barrow M A, Leonard J V, Read A P, Trembath R C. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet 1995: 56: 400-407.
36. Young RS, Shapiro SD, Hansen KL, Kennedy H, Rainosek DE, Guerra FA. Deletion of 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 36,XX,del(2)(q36). J Med Genet 1983: 20: 199-202.
37. Yu CW, Chen H. De novo inverted tandem duplication of the long arm of chromosome 2(q34-q37). Birth Defects Original Article Series 1982: 18(3B): 311-320.