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Article

Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder.

European journal of medical genetics - 1 Aug 2021

Helman Guy, Taylor Lauren E, Walkiewicz Marzena, Le Moing Maelle, Eggers Stefanie, Yaplito-Lee Joy, Fuller Maria, Dabscheck Gabriel, Rodriguez-Casero Victoria, White Susan M, Simons Cas

Abstract excerpt

RNA sequencing (RNAseq) is emerging as a complementary tool to DNA sequencing, providing utility in diagnosis for disorders such as neuronal ceroid lipofuscinosis CLN2 disease. We describe an individual with a presentation suggestive of an attenuated CLN2 phenotype, including a history of regression, recent-onset microcephaly and spasticity from age five years. Exome sequencing revealed two variants inherited in...

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Identifiers

PMID: 34126256
DOI: 10.1016/j.ejmg.2021.104259

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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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