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  Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33

Walter, S., Sandig, K., Hinkel, G. K., Mitulla, B., Ounap, K., Sims, G., et al. (2004). Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. American Journal of Medical Genetics, 128A(4), 364-373. doi:10.1002/ajmg.a.30160.

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Genre: Zeitschriftenartikel
Alternativer Titel : Am. J. Med. Genet.

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 Urheber:
Walter, Sabine, Autor
Sandig, Klaus, Autor
Hinkel, Georg K., Autor
Mitulla, Beate, Autor
Ounap, Katrin, Autor
Sims, Giles, Autor
Sitska, Mari, Autor
Utermann, Barbara, Autor
Viertel, Petra1, Autor
Kalscheuer, Vera M.2, Autor           
Bartsch, Oliver, Autor
Affiliations:
1Max Planck Society, ou_persistent13              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Schlagwörter: subtelomere FISH • checklist • disease-associated balanced chromosome rearrangement
 Zusammenfassung: Submicroscopic or subtle aneusomies at the chromosome ends, typically diagnosed by subtelomere fluorescence in situ hybridization (FISH), are a significant cause of idiopathic mental retardation (MR). Some 20 subtelomere studies, including more than 2,500 subjects, have been reported. The studies are not directly comparable because different techniques and patient ascertainment criteria were used, but an analysis of 14 studies showed that aberrations were detected in 97 out of 1,718 patients (5.8%, range 2-29%; 95% confidence interval (CI) 4.60-6.84%). We performed a subtelomere FISH study of 50 unrelated children ascertained by a checklist that evaluates MR or developmental delay, dysmorphism, growth defect, and abnormal pedigree and found 10 bona fide causal rearrangements (detection rate 20%, 95% CI 10-33.7%). The findings included five unbalanced familial translocations or inversions, two unbalanced de novo translocations, and two de novo deletions. Patient 5 showed multiple anomalies (large head, vision defect, omphalocele, heart defect, enlarged kidneys, moderate MR, speech defect, mild transient homocysteinemia) and a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. The report of a subtelomeric balanced rearrangement associated with a disease phenotype is a novel one. FISH mapping using panels of overlapping BAC clones identified a number of candidate genes at or near his breakpoints, including ASPA, TRPV3, TRPV1, and CTNS at 17p13.3, and three genes of unknown function at 20q13.33. Only the homocysteinemia could be speculatively linked to one of these genes (CTNS, the gene for cystinosis). Three within the subset of 16 children (18.8%) with mild (IQ, 50-69) or unspecified degree of MR tested positive, suggesting that the checklist approach could be especially useful within this group of patients.

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Sprache(n): eng - English
 Datum: 2004-06-11
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: eDoc: 225689
DOI: 10.1002/ajmg.a.30160
 Art des Abschluß: -

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Titel: American Journal of Medical Genetics
  Alternativer Titel : Am. J. Med. Genet.
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 128A (4) Artikelnummer: - Start- / Endseite: 364 - 373 Identifikator: ISSN: 0148-7299