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Update on Kleefstra Syndrome.

M H Willemsen1, A T Vulto-van Silfhout, W M Nillesen

  • 1Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

Molecular Syndromology
|June 7, 2012
PubMed
Summary
This summary is machine-generated.

Kleefstra syndrome, characterized by developmental delay and distinct facial features, is caused by 9q34.3 microdeletions or EHMT1 gene mutations. New cases confirm previous findings and suggest cardiac screening and awareness of behavioral changes in adolescents.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Kleefstra syndrome presents with intellectual disability, hypotonia, and unique facial features.
  • The syndrome results from 9q34.3 microdeletions or mutations in the EHMT1 gene.
  • Previous studies found no clear genotype-phenotype correlation in affected individuals.

Purpose of the Study:

  • To expand genotypic and phenotypic knowledge of Kleefstra syndrome.
  • To report on 29 newly diagnosed patients and review existing literature.
  • To identify potential new clinical recommendations for patient management.

Main Methods:

  • Clinical and molecular data from 29 new patients (16 with 9q34.3 microdeletion, 13 with EHMT1 mutation) were analyzed.
  • Literature review of previously described Kleefstra syndrome cases.
  • Comparison of clinical features with genetic findings.

Main Results:

  • Findings in the 29 new patients align with previously reported characteristics of Kleefstra syndrome.
  • No clear genotype-phenotype correlation was observed in this cohort.
  • Cardiac arrhythmias and regressive behavioral phenotypes in adolescence/adulthood were noted.

Conclusions:

  • The study reinforces existing knowledge on Kleefstra syndrome genetics and phenotypes.
  • Cardiac screening is recommended due to the potential for arrhythmias.
  • Awareness of unexplained neuropsychiatric features emerging in adolescence/adulthood is crucial for patient care.