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Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay.

Brian T Wilson1,2, Murwan Omer3, Stephen W Hellens2

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American Journal of Medical Genetics. Part A
|April 23, 2015
PubMed
Summary

Microdeletion 1p35.2 in two patients caused intrauterine growth retardation and developmental delays. The deletion may impact histone deacetylase 1 (HDAC1) function and zygotic genome activation, affecting inheritance.

Keywords:
HDAC1 histone deacetylasedeletion 1p35.2humankaryopherin alpha 6 (importin alpha 7)

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Microdeletion 1p35.2 is a rare chromosomal abnormality.
  • Associated phenotypes can include growth and developmental issues.
  • Facial dysmorphia and hearing impairment are observed.

Purpose of the Study:

  • To report on two patients with microdeletion 1p35.2.
  • To investigate potential genetic mechanisms underlying the observed phenotype.
  • To explore implications for inheritance patterns.

Main Methods:

  • Clinical case description of two affected individuals.
  • Phenotypic analysis including facial features, growth parameters, and developmental assessments.
  • Genetic analysis to confirm microdeletion 1p35.2 and identify candidate genes.

Main Results:

  • Both patients exhibited intrauterine growth retardation, small stature, hypermetropia, hearing impairment, and developmental delay.
  • Distinct facial features were noted, including long myopathic facies, fine eyebrows, small mouths, and micrognathia.
  • The deletion encompasses the KPNA6 gene, potentially affecting zygotic genome activation.

Conclusions:

  • Microdeletion 1p35.2 is associated with a specific phenotype including growth, developmental, and facial abnormalities.
  • Histone deacetylase 1 (HDAC1) may play a role in the facial phenotype.
  • Deletion of KPNA6 could impede transmission of the 1p35.2 deletion from affected females to offspring.