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 language | English |
|---|---|
| Pages (from-to) | 626-629 |
| Number of pages | 4 |
| Journal | European Journal of Medical Genetics |
| Volume | 57 |
| Issue number | 11-12 |
| DOIs | |
| Publication status | Published - Nov 1 2014 |
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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 journal › Article
}
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 -