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Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report
The gene that codes for the close homolog of L1 (CHL1 gene) is located in the 3p26.3 cytogenetic band in the distal portion of the 3p chromosome. This gene is highly expressed in the central nervous system and plays an important role in brain formation and plasticity. Complete or partial CHL 1 gene-...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10126371/ https://www.ncbi.nlm.nih.gov/pubmed/37114233 http://dx.doi.org/10.3389/fneur.2023.1104649 |
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author | Onate-Quiroz, Kenny V. Nwosu, Benjamin Udoka Salemi, Parissa |
author_facet | Onate-Quiroz, Kenny V. Nwosu, Benjamin Udoka Salemi, Parissa |
author_sort | Onate-Quiroz, Kenny V. |
collection | PubMed |
description | The gene that codes for the close homolog of L1 (CHL1 gene) is located in the 3p26.3 cytogenetic band in the distal portion of the 3p chromosome. This gene is highly expressed in the central nervous system and plays an important role in brain formation and plasticity. Complete or partial CHL 1 gene-deficient mice have demonstrated neurocognitive deficits. In humans, mutations of the CHL 1 gene are infrequent with most mutations described in the literature as deletions. This case report describes an individual with a duplication in the CHL 1 and a presentation consistent with a syndromic form of neurocognitive impairment. To the best of our knowledge, this mutation has not been previously described in the literature. |
format | Online Article Text |
id | pubmed-10126371 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-101263712023-04-26 Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report Onate-Quiroz, Kenny V. Nwosu, Benjamin Udoka Salemi, Parissa Front Neurol Neurology The gene that codes for the close homolog of L1 (CHL1 gene) is located in the 3p26.3 cytogenetic band in the distal portion of the 3p chromosome. This gene is highly expressed in the central nervous system and plays an important role in brain formation and plasticity. Complete or partial CHL 1 gene-deficient mice have demonstrated neurocognitive deficits. In humans, mutations of the CHL 1 gene are infrequent with most mutations described in the literature as deletions. This case report describes an individual with a duplication in the CHL 1 and a presentation consistent with a syndromic form of neurocognitive impairment. To the best of our knowledge, this mutation has not been previously described in the literature. Frontiers Media S.A. 2023-04-11 /pmc/articles/PMC10126371/ /pubmed/37114233 http://dx.doi.org/10.3389/fneur.2023.1104649 Text en Copyright © 2023 Onate-Quiroz, Nwosu and Salemi. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Onate-Quiroz, Kenny V. Nwosu, Benjamin Udoka Salemi, Parissa Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report |
title | Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report |
title_full | Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report |
title_fullStr | Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report |
title_full_unstemmed | Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report |
title_short | Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report |
title_sort | novel duplication of the cell adhesion molecule l1-like gene in an individual with cognitive impairment, tall stature, and obesity: a case report |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10126371/ https://www.ncbi.nlm.nih.gov/pubmed/37114233 http://dx.doi.org/10.3389/fneur.2023.1104649 |
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