Molecular Evaluation of Children with Clinical Russell-Silver Phenotypes: The First Report From Iran
| Autor: | Mohammad Ehsan Jaripour, Reza Jafarzadeh Esfehani, Rahim Vakili, Ariane Sadr-Nabavi, Somayyeh Hashemian |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty education.field_of_study business.industry Population Genetic disorder Russell-Silver Syndrome 030105 genetics & heredity medicine.disease Phenotype 03 medical and health sciences 030104 developmental biology Clinical diagnosis Pediatrics Perinatology and Child Health medicine Multiplex ligation-dependent probe amplification medicine.symptom business education Weight gain Low-set ears |
| Zdroj: | Iranian Journal of Pediatrics. |
| ISSN: | 2008-2150 2008-2142 |
| DOI: | 10.5812/ijp.81388 |
| Popis: | Background: Russell-Silver syndrome is a rare heterogeneous genetic disorder that is mostly known because of its prenatal and postnatal growth retardation. Patients with Russell-Silver syndrome have syndromic facial appearance, as well as some other common clinical features. Disrupted methylation of 11p15 is the most common genetic abnormality that is seen in these patients, called as one of the tire molecular studies in diagnostic guidelines. Objectives: In the present study, the methylation status of 11p15 was evaluated in a group of children with clinical diagnosis of Russell-Silver syndrome in Iran. Methods: A total number of 15 children with a clinical diagnosis of Russell-Silver syndrome were enrolled in this descriptive study. Children’s DNA was extracted by the salting-out method and the 11p15 region was assessed by the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) method. The correlation of molecular results was then evaluated with clinical features. Results: The mean age of children was 4.5 years and most of them were male. Among 15 children, four children had a confirmed molecular diagnosis of Russell-Silver syndrome according to the MS-MLPA results. All of these four patients had low set ears, high peach voice, micrognathia, failure to gain weight, growth failure, and triangular face. Conclusions: Less than one-third (26.6 ) of our patients had confirmed Russell-Silver syndrome by the MLPA analysis. This experiment showed that Russell-Silver syndrome with abnormal 11p15 methylation was less frequent in our population and showed similar clinical findings in comparison with other studies. © 2019, Author(s). |
| Databáze: | OpenAIRE |
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