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Article

Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant.

Annals of human genetics - 1 Sept 2026

Harasaki Takuma, Miyamoto Sachiko, Yonekawa Takahiro, Isogai Masaharu, Kato Mitsuhiro, Nakashima Mitsuko, Saitsu Hirotomo

Abstract excerpt

BACKGROUND: Pathogenic variants in L1CAM, located at Xq28, cause a spectrum of neurodevelopmental disorders of varying severity, including congenital hydrocephalus, MASA syndrome, agenesis of the corpus callosum, and intellectual disability. MATERIAL AND METHODS: Exome sequencing (ES) and RNA studies using urine‑derived cells were performed in the younger sibling with agenesis of the corpus callosum,...

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Identifiers

PMID: 42411594
DOI: 10.1111/ahg.70046

Genes

L1CAM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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