The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation

Current Opinion in Genetics and Development

Volumn 13, Issue 3, 2003, Pages 310-316

  Flint, Jonathan ^a   Knight, Samantha ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME REARRANGEMENT; CLINICAL EXAMINATION; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DISEASE SEVERITY; FAMILY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC SCREENING; GENOTYPE; HUMAN; HYBRIDIZATION; MENTAL DEFICIENCY; MENTAL PATIENT; MULTIPLEX AMPLIFIABLE PROBE HYBRIDIZATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; PSYCHIATRIC DIAGNOSIS; REVIEW; TELOMERE;

EID: 0038392953     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(03)00049-2     Document Type: Review

References (43)

1. Leonard H., Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment. Retard. Dev. Disabil. Res. Rev. 8:2002;117-134.
2. Flint J., Wilkie A.O., Buckle V.J., Winter R.M., Holland A.J., McDermid H.E. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat. Genet. 9:1995;132-140.
3. Ning Y., Roschke A., Smith A.C., Macha M., Precht K., Riethman H., Ledbetter D., Flint J.et al. National Institutes of Health: Institute of Molecular Medicine Collaboration - A complete set of human telomeric probes and their clinical application. Nat. Genet. 14:1996;86-89.
4. Knight S.J., Lese C.M., Precht K.S., Kuc J., Ning Y., Lucas S., Regan R., Brenan M., Nicod A., Lawrie N.M.et al. An optimized set of human telomere clones for studying telomere integrity and architecture. Am. J. Hum. Genet. 67:2000;320-332.
5. Rosenberg M., Hui L., Ma J.L., Nusbaum H.C., Clark K., Robinson L., Dziadzio L., Swain P.M., Keith T., Hudson T.J.et al. Characterization of short tandem repeats from thirty-one human telomeres. Genome Res. 7:1997;917-923.
6. Mefford H.C., Trask B.J. The complex structure and dynamic evolution of human subtelomeres. Nat. Rev. Genet. 3:2002;91-102 An excellent review of the structure of subtelomeric regions, which has important implications for the surveys of anomalies occurring in these regions.
7. Knight S.J.L., Horsley S.W., Regan R., Lawrie N.M., Maher E.J., Cardy D.L.N., Flint J., Kearney L. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur. J. Hum. Genet. 5:1997;1-8.
8. Brown J., Saracoglu K., Uhrig S., Speicher M.R., Eils R., Kearney L. Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL). Nat. Med. 7:2001;497-501.
9. Wilkie A.O.M. Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms. Am. J. Hum. Genet. 53:1993;688-701.
10. Biesecker L.G. The end of the beginning of chromosome ends. Am. J. Med. Genet. 107:2002;263-266.
11. Armour J.A., Sismani C., Patsalis P.C., Cross G. Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res. 28:2000;605-609.
12. Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30:2002;e57.
13. Hollox E.J., Atia T., Cross G., Parkin T., Armour J.A. High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH). J. Med. Genet. 39:2002;790-795.
14. Veltman J.A., Schoenmakers E.F., Eussen B.H., Janssen I., Merkx G., van Cleef B., van Ravenswaaij C.M., Brunner H.G., Smeets D., van Kessel A.G. High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am. J. Hum. Genet. 70:2002;1269-1276 The authors used CGH to microarrays to analyse 20 patients with known cytogenetic abnormalities involving one or more telomeres. They report excellent agreement between the cytogenetic diagnosis and the array-based CGH method, and found additional telomere rearrangements in 3 of the 20 patients studied. This is the first application of CGH to microarrays for the detection of subtelomeric rearrangements.
15. Lamb A.N., Lytle C.H., Aylsworth A.S., Powell C.M., Rao K.W., Hendrickson M., Carey J.C., Opitz J.M., Viskochil D.H., Leonard C.O.et al. Low proportion of subtelomeric rearrangements in a population of patients with mental retardation and dysmorphic features. Am. J. Hum. Genet. 65(Suppl):1998;A169.
16. Vorsanova S.G., Koloti D., Sharonin V.O., Soloviev V., Yurov Y.B. FISH analysis of microaberrations at telomeric and subtelomeric regions in chromosomes of children with mental retardation. Am. J. Hum. Genet. 65(Suppl):1998;A154.
17. Viot G., Gosset P., Fert S., Prieur M., Turleau C., Raoul O., De Blois M.-C., Lyonnet C., Munnich A., Vekemans M. Cryptic subtelomeric rearrangements detected by FISH in mentally retarded and dysmorphic patients. Am. J. Hum. Genet. 63(Suppl):1998;A10.
18. Rio M., Molinari F., Heuertz S., Ozilou C., Gosset P., Raoul O., Cormier-Daire V., Amiel J., Lyonnet S., Le Merrer M.et al. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. J. Med. Genet. 39:2002;266-270.
19. Colleaux L., Rio M., Heuertz S., Moindrault S., Turleau C., Ozilou C., Gosset P., Raoult O., Lyonnet S., Cormier-Daire V.et al. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation. Eur. J. Hum. Genet. 9:2001;319-327.
20. Knight S.J.L., Regan R., Nicod A., Horsley S.W., Kearney L., Homfray T., Winter R.M., Bolton P., Flint J. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet. 354:1999;1676-1681.
21. Ballif B.C., Kashork C.D., Shaffer L.G. The promise and pitfalls of telomere region-specific probes. Am. J. Hum. Genet. 67:2000;1356-1359.
22. Riegel M., Baumer A., Jamar M., Delbecque K., Herens C., Verloes A., Schinzel A. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum. Genet. 109:2001;286-294 This report comes from two centres in Europe where 254 patients were evaluated for subtelomeric rearrangements. The authors found 13 unbalanced rearrangements and two further aberrations, which, from family studies, they concluded were variants without influence on the phenotype. The paper emphasises the problems of clinical selection on the outcome of the survey and the difficulties that polymorphisms pose for the interpretation of the FISH results.
23. Joyce C.A., Dennis N.R., Cooper S., Browne C.E. Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH. Hum. Genet. 109:2001;440-451 A carefully considered study that compares results from a control group with two groups of patients: one highly selected group with unexplained mental retardation, and one unselected group. No fully cryptic abnormalities were detected in the patient groups, but two cryptic telomeric abnormalities were detected among the control individuals. These results indicate that most subtelomeric abnormalities could be detected by high-resolution G-band analysis, and that non-pathogenic rearrangements may be commoner than supposed.
24. Baker E., Hinton L., Callen D.F., Altree M., Dobbie A., Eyre H.J., Sutherland G.R., Thompson E., Thompson P., Woollatt E.et al. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am. J. Med. Genet. 107:2002;285-293.
25. Ballif B.C., Kashork C.D., Shaffer L.G. FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes. Eur. J. Hum. Genet. 8:2000;764-770.
26. Bailey J.A., Gu Z., Clark R.A., Reinert K., Samonte R.V., Schwartz S., Adams M.D., Myers E.W., Li P.W., Eichler E.E. Recent segmental duplications in the human genome. Science. 297:2002;1003-1007.
27. Martin C.L., Waggoner D.J., Wong A., Uhrig S., Roseberry J.A., Hedrick J.F., Pack S.D., Russell K., Zackai E., Dobyns W.B.et al. "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J. Med. Genet. 39:2002;734-740.
28. de Vries B.B., White S.M., Knight S.J., Regan R., Homfray T., Young I.D., Super M., McKeown C., Splitt M., Quarrell O.W.et al. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J. Med. Genet. 38:2001;145-150 This paper attempts to use clinical critieria to prioritize cases for subtelomeric screening. Birth history, facial dysmorphism, congenital malformations, and family history were assessed for 29 patients with a known subtelomeric defect and 110 controls. The authors developed a five-item checklist that allowed exclusion from further testing in 20% of the mentally retarded children, without missing any subtelomere cases. This is the first attempt to define phenotypic features of patients with subtelomeric rearrangements.
29. Rosenberg M.J., Vaske D., Killoran C.E., Ning Y., Wargowski D., Hudgins L., Tifft C.J., Meck J., Blancato J.K., Rosenbaum K.et al. Detection of chromosomal aberrations by a whole-genome microsatellite screen. Am. J. Hum. Genet. 66:2000;419-427.
30. Flint J., Wilkie A.O.M. The genetics of mental retardation. Br. Med. Bull. 52:1996;453-464.
31. Rosenberg M.J., Killoran C., Dziadzio L., Chang S., Stone D.L., Meck J., Aughton D., Bird L.M., Bodurtha J., Cassidy S.B.et al. Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum. Genet. 109:2001;311-318 This paper is interesting for its molecular analysis of telomeric polymorphisms. Using short tandem repeats, the authors screened 120 children with idiopathic mental retardation for uniparental disomy and subtelomeric deletions. No cases of uniparental disomy were found, but there were five subjects with subtelomeric anomalies. During their investigation, the authors found 14 subjects with a 2q telomere polymorphism, a supposedly harmless variant. The authors suggest that there are at least three alleles for the 2q length polymorphism and that length polymorphisms also exist at the 9q and 7q telomeres.
32. Rossi E., Piccini F., Zollino M., Neri G., Caselli D., Tenconi R., Castellan C., Carrozzo R., Danesino C., Zuffardi O.et al. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J. Med. Genet. 38:2001;417-420.
33. Sismani C., Armour J.A., Flint J., Girgalli C., Regan R., Patsalis P.C. Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay. Eur. J. Hum. Genet. 9:2001;527-532.
34. Helias-Rodzewicz Z., Bocian E., Stankiewicz P., Obersztyn E., Kostyk E., Jakubow-Durska K., Kutkowska-Kazmierczak A., Mazurczak T. Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies. J. Med. Genet. 39:2002;e53.
35. van Karnebeek C.D., Koevoets C., Sluijter S., Bijlsma E.K., Smeets D.F., Redeker E.J., Hennekam R.C., Hoovers J.M. Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience. J. Med. Genet. 39:2002;546-553.
36. Slavotinek A., Rosenberg M., Knight S., Gaunt L., Fergusson W., Killoran C., Clayton Smith J., Kingston H., Campbell R.H.A., Flint J.et al. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J. Med. Genet. 36:1999;405-411.
37. Clarkson B., Pavenski K., Dupuis L., Kennedy S., Meyn S., Nezarati M.M., Nie G., Weksberg R., Withers S., Quercia N.et al. Detecting rearrangements in children using subtelomeric FISH and SKY. Am. J. Med. Genet. 107:2002;267-274.
38. Joly G., Lapierre J.M., Ozilou C., Gosset P., Aurias A., de Blois M.C., Prieur M., Raoul O., Colleaux L., Munnich A.et al. Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype. Clin. Genet. 60:2001;212-219.
39. Fan Y.S., Zhang Y., Speevak M., Farrell S., Jung J.H., Siu V.M. Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes. Genet. Med. 3:2001;416-421.
40. Popp S., Schulze B., Granzow M., Keller M., Holtgreve-Grez H., Schoell B., Brough M., Hager H.D., Tariverdian G., Brown J.et al. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Hum. Genet. 111:2002;31-39.
41. Anderlid B., Anneren G., Blennow E., Nordenskjold M. Subtelomeric rearrangements detected by FISH in patients with idiopathic mental retardation. Am. J. Hum. Genet. 65(Suppl):1998;A67.
42. Dawson A.J., Putnam S., Schultz J., Riordan D., Prasad C., Greenberg C.R., Chodirker B.N., Mhanni A.A., Chudley A.E. Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features. Clin. Genet. 62:2002;488-494.
43. Borgione E., Giudice M.L., Galesi O., Castiglia L., Failla P., Romano C., Ragusa A., Fichera M. How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation. J. Med. Genet. 38:2001;E1.