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 article

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

Fingerprint

Coloboma
Deafness
Genes
Chromosomes, Human, Pair 18
Penetrance
Chromosomes
Causality
Cerebellum
Growth Hormone
Genotype
Phenotype
Cerebellar Hypoplasia
Cerebellar Vermis

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

Cite this

A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency. / Giordano, Mara; Muratore, Valentina; Babu, Deepak; Meazza, Cristina; Bozzola, Mauro.

In: Molecular Cytogenetics, Vol. 9, No. 1, 89, 03.12.2016.

Research output: Contribution to journalReview article

@article{f621d2a88ab74d398370cd62ab8fa361,
title = "A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency",
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",
author = "Mara Giordano and Valentina Muratore and Deepak Babu and Cristina Meazza and Mauro Bozzola",
year = "2016",
month = "12",
day = "3",
doi = "10.1186/s13039-016-0298-9",
language = "English",
volume = "9",
journal = "Molecular Cytogenetics",
issn = "1755-8166",
publisher = "BioMed Central Ltd.",
number = "1",

}

TY - JOUR

T1 - A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency

AU - Giordano, Mara

AU - Muratore, Valentina

AU - Babu, Deepak

AU - Meazza, Cristina

AU - Bozzola, Mauro

PY - 2016/12/3

Y1 - 2016/12/3

N2 - 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.

AB - 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.

KW - 18p11.31-p11.23 microduplication

KW - Chorioretinal coloboma

KW - Deafness

KW - Growth hormone deficiency

KW - Hypoplasia of the cerebellar vermis

UR - http://www.scopus.com/inward/record.url?scp=85000978449&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85000978449&partnerID=8YFLogxK

U2 - 10.1186/s13039-016-0298-9

DO - 10.1186/s13039-016-0298-9

M3 - Review article

AN - SCOPUS:85000978449

VL - 9

JO - Molecular Cytogenetics

JF - Molecular Cytogenetics

SN - 1755-8166

IS - 1

M1 - 89

ER -