A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency

Mara Giordano, Valentina Muratore, Deepak Babu, Cristina Meazza, Mauro Bozzola

Research output: Contribution to journalReview articlepeer-review

Abstract

Background: Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5-431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy. Case presentation: In a 10 year-old boy with moderate psychomotor delay, hypoplasia of the cerebellar vermis, chorioretinal coloboma, deafness and growth hormone deficiency (GHD), an interstitial microduplication at 18p11.31-p11.23 was identified by array-CGH. This maternally inherited microduplication, encompasses three genes, namely ARHGAP28, LINC00668 and LAMA1 (a gene involved in cerebellum and retinal development). Conclusions: The genotype-phenotype is discussed with particular attention to the LAMA1 gene, although it is difficult, as in many other similar situations, to assess the causality of the detected duplication in the absence of further studies aiming to explore the presence of co-occurring variants that could explain the incomplete penetrance.

Original languageEnglish
Article number89
JournalMolecular Cytogenetics
Volume9
Issue number1
DOIs
Publication statusPublished - Dec 3 2016

Keywords

  • 18p11.31-p11.23 microduplication
  • Chorioretinal coloboma
  • Deafness
  • Growth hormone deficiency
  • Hypoplasia of the cerebellar vermis

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Biochemistry, medical

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