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Article

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.

Human mutation - 1 Feb 2020

McCullough Carmel G, Szelinger Szabolcs, Belnap Newell, Ramsey Keri, Schrauwen Isabelle, Claasen Ana M, Burke Leah W, Siniard Ashley L, Huentelman Matthew J, Narayanan Vinodh, Craig David W

Abstract excerpt

We report a likely pathogenic splice-altering AP4S1 intronic variant in two sisters with progressive spastic paraplegia, global developmental delay, shy character, and foot deformities. Sequencing was completed on whole-blood messenger RNA (mRNA) and analyzed for gene expression outliers after exome sequencing analysis failed to identify a causative variant. AP4S1 was identified as an outlier and contained a rare...

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PMID: 31660686
DOI: 10.1002/humu.23939

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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