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Strategies for Assessing Autistic-Like Behaviors in Mice
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Silver-Russell syndrome.

Gerhard Binder1, Matthias Begemann, Thomas Eggermann

  • 1University Children's Hospital Tuebingen, Paediatric Endocrinology, Hoppe-Seyler-Strasse 1, Tuebingen, Germany. gerhard.binder@med.uni-tuebingen.de

Best Practice & Research. Clinical Endocrinology & Metabolism
|March 15, 2011
PubMed
Summary
This summary is machine-generated.

Silver-Russell syndrome (SRS) is a heterogeneous disorder diagnosed by growth issues and distinct facial features. Genetic testing focuses on epimutations like 11p15 hypomethylation or chromosome 7 UPD(mat), with recombinant GH offering short-term growth benefits.

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Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Silver-Russell syndrome (SRS) is a rare, heterogeneous genetic disorder characterized by intrauterine growth retardation, postnatal growth failure, and distinctive facial features.
  • Diagnosis relies on a combination of clinical findings, including short stature, relative macrocephaly, a triangular face, and body asymmetry.
  • Genetic underpinnings involve epigenetic abnormalities, primarily hypomethylation at imprinting control region 1 (ICR1) on 11p15 (approx. 44% of cases) and maternal uniparental disomy of chromosome 7 (UPD(7)mat) (5-10% of cases).

Purpose of the Study:

  • To outline the diagnostic criteria and genetic basis of Silver-Russell syndrome.
  • To recommend appropriate genetic testing strategies for identifying SRS-associated epimutations.
  • To review current treatment options, specifically recombinant human growth hormone (rhGH) therapy, for short stature in SRS.

Main Methods:

  • Clinical diagnosis based on established criteria for intrauterine growth retardation, postnatal growth failure, and characteristic physical features.
  • Genetic analysis utilizing methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) for 11p15 loci methylation analysis.
  • Methylation-specific PCR and microsatellite typing for the detection of UPD(7)mat.

Main Results:

  • Severe SRS phenotypes are often linked to ICR1 hypomethylation, while milder forms are more frequently associated with UPD(7)mat.
  • Recommended genetic testing strategies include MS-MLPA for 11p15 and methylation-specific PCR/microsatellite typing for UPD(7)mat.
  • Recombinant human GH treatment shows promise for short-term catch-up growth in SRS patients, though long-term final height data is still limited.

Conclusions:

  • SRS is a complex genetic disorder with distinct epigenetic causes requiring targeted diagnostic approaches.
  • Accurate genetic testing is crucial for understanding the specific epimutation underlying SRS in an individual.
  • While rhGH offers short-term benefits, further research is needed to evaluate its long-term efficacy on final height in SRS.