Onate-Quiroz Kenny V, Nwosu Benjamin Udoka, Salemi Parissa
Division of Pediatric Endocrinology, Cohen Children's Medical Center of New York, New Hyde Park, NY, United States.
Front Neurol. 2023 Apr 11;14:1104649. doi: 10.3389/fneur.2023.1104649. eCollection 2023.
The gene that codes for the close homolog of L1 ( 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 gene-deficient mice have demonstrated neurocognitive deficits. In humans, mutations of the gene are infrequent with most mutations described in the literature as deletions. This case report describes an individual with a duplication in the 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.
编码L1紧密同源物的基因位于3号染色体远端的3p26.3细胞遗传学带。该基因在中枢神经系统中高度表达，在大脑形成和可塑性中起重要作用。完全或部分基因缺陷的小鼠已表现出神经认知缺陷。在人类中，该基因的突变很少见，文献中描述的大多数突变是缺失。本病例报告描述了一名具有该基因重复且表现符合神经认知障碍综合征形式的个体。据我们所知，这种突变以前在文献中尚未有描述。
