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Silver-Russell syndrome in Hong Kong.

H M Luk1, K S Yeung2, W L Wong2

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|July 30, 2016
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Summary

This study investigated Silver-Russell syndrome in Hong Kong, finding its clinical features and epigenetic defects similar to Western populations. Scoring systems like Netchine et al. and Birmingham showed comparable sensitivity in diagnosis.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Pediatrics

Background:

  • Silver-Russell syndrome (SRS) is a rare growth disorder with complex genetic and epigenetic causes.
  • Understanding the molecular basis and clinical presentation of SRS is crucial for accurate diagnosis and management.

Purpose of the Study:

  • To investigate the molecular mechanisms, genotype-phenotype correlations, and clinical scoring system performance in Hong Kong patients with Silver-Russell syndrome.
  • To compare findings with international data.

Main Methods:

  • Retrospective case series of 28 patients diagnosed with SRS between 2010 and 2015 at two Hong Kong genetic clinics.
  • Analysis of molecular causes including H19 loss of DNA methylation, uniparental disomy of chromosomes 7 and 11, and unexplained cases.
  • Evaluation of Netchine et al., Bartholdi et al., and Birmingham clinical scoring systems.

Main Results:

  • Identified H19 loss of DNA methylation (35.7%), maternal uniparental disomy of chromosome 7 (21.4%), mosaic maternal uniparental disomy of chromosome 11 (3.6%), and unexplained SRS (39.3%).
  • No significant genotype-phenotype correlation found between H19 and maternal UPD7.
  • Postnatal microcephaly and café-au-lait spots were more frequent in unexplained SRS, while body/limb asymmetry was more common in molecularly confirmed cases. Netchine et al. and Birmingham scores showed similar sensitivity.

Conclusions:

  • This is the first territory-wide study of SRS in Hong Kong.
  • Clinical features and epigenetic defects in Hong Kong SRS patients are comparable to those in Western populations.
  • Netchine et al. and Birmingham scoring systems demonstrate utility in diagnosing SRS in this population.