The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.
Genet Test Mol Biomarkers
; 19(12): 684-91, 2015 Dec.
Article
en En
| MEDLINE
| ID: mdl-26505556
ABSTRACT
AIMS:
To study the frequency of methylation abnormalities among Estonian patients selected according to published clinical diagnostic scoring systems for Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS). MATERIALS ANDMETHODS:
Forty-eight patients with clinical suspicion of SRS (n = 20) or BWS (n = 28) were included in the study group, to whom methylation-specific multiplex ligation-dependant probe amplification analysis of 11p15 region was made. In addition, to patients with minimal diagnostic score for either SRS or BWS, multilocus methylation-specific single nucleotide primer extension assay was performed.RESULTS:
Five (38%) SRS patients with positive clinical scoring had abnormal methylation pattern at chromosome 11p15, whereas in the BWS group, only one patient was diagnosed with imprinting control region 2 (ICR2) hypomethylation (8%). An unexpected hypomethylation of the PLAGL1 (6q24) and IGF2R (6q25) genes in the patient with the highest BWS scoring was found.CONCLUSIONS:
Compared to BWS, diagnostic criteria used for selecting SRS patients gave us a similar detection rate of 11p15 imprinting disorders as seen in other studies. A more careful selection of patients with possible BWS should be considered to improve the detection of molecularly confirmed cases. Genome-wide multilocus methylation tests could be used in routine clinical practice as it increases the detection rates of imprinting disorders.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Factores de Transcripción
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Síndrome de Beckwith-Wiedemann
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Receptor IGF Tipo 2
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Proteínas de Ciclo Celular
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Metilación de ADN
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Proteínas Supresoras de Tumor
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Síndrome de Silver-Russell
Tipo de estudio:
Clinical_trials
/
Diagnostic_studies
Límite:
Female
/
Humans
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Infant
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Male
/
Newborn
País como asunto:
Europa
Idioma:
En
Año:
2015
Tipo del documento:
Article