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Case Reports
. 2023 Apr 11:14:1104649.
doi: 10.3389/fneur.2023.1104649. eCollection 2023.

Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report

Kenny V Onate-Quiroz  1 , Benjamin Udoka Nwosu  1 , Parissa Salemi  1
Affiliations
Case Reports

Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report

Kenny V Onate-Quiroz et al. Front Neurol. .

Abstract

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.

Keywords: CHL 1 gene; autism; duplication; obesity; tall stature.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
(A,B) Depict the patient’s frontal and profile views. (C) Depicts a closer view of his face, and (D) is a lateraral radiograph of his skull and neck.
FIGURE 2
FIGURE 2
(A) Patient’s growth charts from ages 0–24 months. (B) Patient’s growth charts from ages 2–17 years.
See this image and copyright information in PMC

References

    1. Te Weehi L, Maikoo R, Mc Cormack A, Mazzaschi R, Ashton F, Zhang L, et al. . Microduplication of 3p26.3 implicated in cognitive development. Case Rep Genet. (2014) 2014:295359. doi: 10.1155/2014/295359, PMID: - DOI - PMC - PubMed
    1. Chen CP, Su YN, Hsu CY, Chern SR, Lee CC, Chen YT, et al. . Mosaic deletion-duplication syndrome of chromosome 3: prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy. Taiwan J Obstet Gynecol. (2011) 50:485–91. doi: 10.1016/j.tjog.2011.10.015, PMID: - DOI - PubMed
    1. Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, et al. . Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet. (2004) 74:1286–93. doi: 10.1086/421474, PMID: - DOI - PMC - PubMed
    1. Dijkhuizen T, van Essen T, van der Vlies P, Verheij JB, Sikkema-Raddatz B, van der Veen AY, et al. . FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. Am J Med Genet A. (2006) 140:2482–7. doi: 10.1002/ajmg.a.31487, PMID: - DOI - PubMed
    1. Wei MH, Karavanova I, Ivanov SV, Popescu NC, Keck CL, Pack S, et al. . In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules. Hum Genet. (1998) 103:355–64. doi: 10.1007/s004390050829, PMID: - DOI - PubMed

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