AUTHOR=Onate-Quiroz Kenny V. , Nwosu Benjamin Udoka , Salemi Parissa 

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

JOURNAL=Frontiers in Neurology

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1104649

DOI=10.3389/fneur.2023.1104649

ISSN=1664-2295

ABSTRACT=<p>The gene that codes for the close homolog of L1 (<italic>CHL1</italic> 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 <italic>CHL 1</italic> gene-deficient mice have demonstrated neurocognitive deficits. In humans, mutations of the <italic>CHL 1</italic> gene are infrequent with most mutations described in the literature as deletions. This case report describes an individual with a duplication in the <italic>CHL 1</italic> 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.</p>