Universität zu Köln

Reuter, Miriam S., Zech, Michael, Hempel, Maja, Altmueller, Janine, Heung, Tracy, Poelsler, Laura, Santer, Rene, Thiele, Holger, Trost, Brett ORCID: 0000-0003-4863-7273, Kubisch, Christian ORCID: 0000-0003-4220-0978, Scherer, Stephen W. ORCID: 0000-0002-8326-1999, Rudnik-Schoneborn, Sabine, Bassett, Anne S. and Lessel, Davor ORCID: 0000-0003-4496-244X (2022). Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. Eur. J. Hum. Genet., 30 (5). S. 611 - 619. LONDON: SPRINGERNATURE. ISSN 1476-5438

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Abstract

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 variants in PAN2. The affected individuals presented with significant overlap in their clinical features, including mild-moderate intellectual disability, hypotonia, sensorineural hearing loss, EEG abnormalities, congenital heart defects (tetralogy of Fallot, septal defects, dilated aortic root), urinary tract malformations, ophthalmological anomalies, short stature with other skeletal anomalies, and craniofacial features including flat occiput, ptosis, long philtrum, and short neck. Our data confirm that biallelic predicted loss-of-function variants in PAN2 cause a syndrome with multiple congenital anomalies, and suggest an important role of mRNA polyA tail length for proper organ formation.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Reuter, Miriam S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Zech, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED Hempel, Maja UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Heung, Tracy UNSPECIFIED UNSPECIFIED UNSPECIFIED Poelsler, Laura UNSPECIFIED UNSPECIFIED UNSPECIFIED Santer, Rene UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Trost, Brett UNSPECIFIED orcid.org/0000-0003-4863-7273 UNSPECIFIED Kubisch, Christian UNSPECIFIED orcid.org/0000-0003-4220-0978 UNSPECIFIED Scherer, Stephen W. UNSPECIFIED orcid.org/0000-0002-8326-1999 UNSPECIFIED Rudnik-Schoneborn, Sabine UNSPECIFIED UNSPECIFIED UNSPECIFIED Bassett, Anne S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lessel, Davor UNSPECIFIED orcid.org/0000-0003-4496-244X UNSPECIFIED
URN:	urn:nbn:de:hbz:38-692602
DOI:	10.1038/s41431-022-01077-y
Journal or Publication Title:	Eur. J. Hum. Genet.
Volume:	30
Number:	5
Page Range:	S. 611 - 619
Date:	2022
Publisher:	SPRINGERNATURE
Place of Publication:	LONDON
ISSN:	1476-5438
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DEADENYLATION Multiple languages Biochemistry & Molecular Biology; Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69260