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Article

Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome.

Annals of human genetics - 1 Jul 2023

Miyamoto Sachiko, Nakamura Kazuyuki, Kato Mitsuhiro, Nakashima Mitsuko, Saitsu Hirotomo

Abstract excerpt

Biallelic CC2D2A variants are associated with a wide range of neurodevelopmental disorders including Meckel syndrome. Here we report a Japanese girl with Meckel syndrome harboring a pathogenic deep intronic variant (NM_001378615.1:c.1149+3569A>G) and an exonic LINE-1 insertion, which was predicted to cause aberrant splicing by SpliceAI and was detected by TEMP2 program, respectively. RNA analysis using...

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Identifiers

PMID: 36970932
DOI: 10.1111/ahg.12507

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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