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Article

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.

European journal of human genetics : EJHG - 1 May 2022

Reuter Miriam S, Zech Michael, Hempel Maja, Altmüller Janine, Heung Tracy, Pölsler Laura, Santer René, Thiele Holger, Trost Brett, Kubisch Christian, Scherer Stephen W, Rudnik-Schöneborn Sabine, Bassett Anne S, Lessel Davor

Abstract excerpt

PAN2 encodes a subunit of a deadenylation complex with important functions in mRNA stability and post-transcriptional regulation of gene expression. A homozygous frameshift deletion in PAN2 was reported in a single affected individual with developmental delay and multiple congenital anomalies. Here, we describe five additional individuals from three unrelated families with homozygous predicted loss-of-function...

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Identifiers

PMID: 35304602
DOI: 10.1038/s41431-022-01077-y
PMCID: PMC9090724

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