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

doi:10.1186/s13039-016-0298-9

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

Mol Cytogenet. 2016 Dec 3:9:89. doi: 10.1186/s13039-016-0298-9. eCollection 2016.

Authors

Mara Giordano¹, Valentina Muratore², Deepak Babu¹, Cristina Meazza², Mauro Bozzola²

Affiliations

¹ Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
² Internal Medicine and Therapeutics Department, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

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.

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

Publication types

Case Reports