Heterozygous deletion of CHL1 gene

Detailed array-CGH and clinical characterization of a new case and review of the literature

Elisa Tassano, Roberta Biancheri, Laura Denegri, Simona Porta, Francesca Novara, Orsetta Zuffardi, Giorgio Gimelli, Cristina Cuoco

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

CHL1 gene maps at 3p26.3 and encodes a cell adhesion molecule of the immunoglobulin superfamily highly expressed in the brain. CHL1 regulates neuronal migration and neurite overgrowth in the developing brain, while in mature neurons it accumulates in the axonal membrane and regulates synapse function via the clathrin-dependent pathways. To our knowledge, to date only three familial cases presenting heterozygous deletion of chromosome 3 at band p26.3, including only the CHL1 gene, have been reported. All the patients presented cognitive impairment characterized by learning and language difficulties. Here, we describe a six-year-old boy in which array-CGH analysis disclosed a terminal 3p26.3 deletion. The deletion was transmitted from his normal mother and included only the CHL1 gene. Our patient presented microcephaly, short stature, mild mental retardation, learning and language delay, and strabismus.In our study we compare the phenotypic and molecular cytogenetic features of CHL1 gene deletion cases. Verbal function developmental delay seems to be a common key finding. The concomitance of the genetic and phenotypic alterations could be a good evidence of a new emerging syndrome associated with the deletion of CHL1 gene alone, although the identification of new cases is required.

Original languageEnglish
Pages (from-to)626-629
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume57
Issue number11-12
DOIs
Publication statusPublished - Nov 1 2014

Fingerprint

Gene Deletion
Learning
Genes
Language Development Disorders
Microcephaly
Clathrin
Chromosomes, Human, Pair 3
Strabismus
Brain
Cell Adhesion Molecules
Neurites
Cytogenetics
Intellectual Disability
Synapses
Immunoglobulins
Language
Mothers
Neurons
Membranes

Keywords

  • 3p26.3 deletion
  • Array-CGH
  • CHL1
  • Language delay

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Medicine(all)

Cite this

Heterozygous deletion of CHL1 gene : Detailed array-CGH and clinical characterization of a new case and review of the literature. / Tassano, Elisa; Biancheri, Roberta; Denegri, Laura; Porta, Simona; Novara, Francesca; Zuffardi, Orsetta; Gimelli, Giorgio; Cuoco, Cristina.

In: European Journal of Medical Genetics, Vol. 57, No. 11-12, 01.11.2014, p. 626-629.

Research output: Contribution to journalArticle

Tassano, Elisa ; Biancheri, Roberta ; Denegri, Laura ; Porta, Simona ; Novara, Francesca ; Zuffardi, Orsetta ; Gimelli, Giorgio ; Cuoco, Cristina. / Heterozygous deletion of CHL1 gene : Detailed array-CGH and clinical characterization of a new case and review of the literature. In: European Journal of Medical Genetics. 2014 ; Vol. 57, No. 11-12. pp. 626-629.
@article{ed9cb46594d142758e37731232cb55db,
title = "Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature",
abstract = "CHL1 gene maps at 3p26.3 and encodes a cell adhesion molecule of the immunoglobulin superfamily highly expressed in the brain. CHL1 regulates neuronal migration and neurite overgrowth in the developing brain, while in mature neurons it accumulates in the axonal membrane and regulates synapse function via the clathrin-dependent pathways. To our knowledge, to date only three familial cases presenting heterozygous deletion of chromosome 3 at band p26.3, including only the CHL1 gene, have been reported. All the patients presented cognitive impairment characterized by learning and language difficulties. Here, we describe a six-year-old boy in which array-CGH analysis disclosed a terminal 3p26.3 deletion. The deletion was transmitted from his normal mother and included only the CHL1 gene. Our patient presented microcephaly, short stature, mild mental retardation, learning and language delay, and strabismus.In our study we compare the phenotypic and molecular cytogenetic features of CHL1 gene deletion cases. Verbal function developmental delay seems to be a common key finding. The concomitance of the genetic and phenotypic alterations could be a good evidence of a new emerging syndrome associated with the deletion of CHL1 gene alone, although the identification of new cases is required.",
keywords = "3p26.3 deletion, Array-CGH, CHL1, Language delay",
author = "Elisa Tassano and Roberta Biancheri and Laura Denegri and Simona Porta and Francesca Novara and Orsetta Zuffardi and Giorgio Gimelli and Cristina Cuoco",
year = "2014",
month = "11",
day = "1",
doi = "10.1016/j.ejmg.2014.09.007",
language = "English",
volume = "57",
pages = "626--629",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Masson SAS",
number = "11-12",

}

TY - JOUR

T1 - Heterozygous deletion of CHL1 gene

T2 - Detailed array-CGH and clinical characterization of a new case and review of the literature

AU - Tassano, Elisa

AU - Biancheri, Roberta

AU - Denegri, Laura

AU - Porta, Simona

AU - Novara, Francesca

AU - Zuffardi, Orsetta

AU - Gimelli, Giorgio

AU - Cuoco, Cristina

PY - 2014/11/1

Y1 - 2014/11/1

N2 - CHL1 gene maps at 3p26.3 and encodes a cell adhesion molecule of the immunoglobulin superfamily highly expressed in the brain. CHL1 regulates neuronal migration and neurite overgrowth in the developing brain, while in mature neurons it accumulates in the axonal membrane and regulates synapse function via the clathrin-dependent pathways. To our knowledge, to date only three familial cases presenting heterozygous deletion of chromosome 3 at band p26.3, including only the CHL1 gene, have been reported. All the patients presented cognitive impairment characterized by learning and language difficulties. Here, we describe a six-year-old boy in which array-CGH analysis disclosed a terminal 3p26.3 deletion. The deletion was transmitted from his normal mother and included only the CHL1 gene. Our patient presented microcephaly, short stature, mild mental retardation, learning and language delay, and strabismus.In our study we compare the phenotypic and molecular cytogenetic features of CHL1 gene deletion cases. Verbal function developmental delay seems to be a common key finding. The concomitance of the genetic and phenotypic alterations could be a good evidence of a new emerging syndrome associated with the deletion of CHL1 gene alone, although the identification of new cases is required.

AB - CHL1 gene maps at 3p26.3 and encodes a cell adhesion molecule of the immunoglobulin superfamily highly expressed in the brain. CHL1 regulates neuronal migration and neurite overgrowth in the developing brain, while in mature neurons it accumulates in the axonal membrane and regulates synapse function via the clathrin-dependent pathways. To our knowledge, to date only three familial cases presenting heterozygous deletion of chromosome 3 at band p26.3, including only the CHL1 gene, have been reported. All the patients presented cognitive impairment characterized by learning and language difficulties. Here, we describe a six-year-old boy in which array-CGH analysis disclosed a terminal 3p26.3 deletion. The deletion was transmitted from his normal mother and included only the CHL1 gene. Our patient presented microcephaly, short stature, mild mental retardation, learning and language delay, and strabismus.In our study we compare the phenotypic and molecular cytogenetic features of CHL1 gene deletion cases. Verbal function developmental delay seems to be a common key finding. The concomitance of the genetic and phenotypic alterations could be a good evidence of a new emerging syndrome associated with the deletion of CHL1 gene alone, although the identification of new cases is required.

KW - 3p26.3 deletion

KW - Array-CGH

KW - CHL1

KW - Language delay

UR - http://www.scopus.com/inward/record.url?scp=84918535143&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84918535143&partnerID=8YFLogxK

U2 - 10.1016/j.ejmg.2014.09.007

DO - 10.1016/j.ejmg.2014.09.007

M3 - Article

VL - 57

SP - 626

EP - 629

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 11-12

ER -