Universität zu Köln

Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariette J. V., Van der Ven, Amelie, Thiele, Holger, Altmueller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K. and Lessel, Davor ORCID: 0000-0003-4496-244X (2021). ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants. Neurogenetics, 22 (4). S. 263 - 270. NEW YORK: SPRINGER. ISSN 1364-6753

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Abstract

ANK3 encodes multiple isoforms of ankyrin-G, resulting in variegated tissue expression and function, especially regarding its role in neuronal development. Based on the zygosity, location, and type, ANK3 variants result in different neurodevelopmental phenotypes. Autism spectrum disorder has been associated with heterozygous missense variants in ANK3, whereas a more severe neurodevelopmental phenotype is caused by isoform-dependent, autosomal-dominant, or autosomal-recessive loss-of-function variants. Here, we present four individuals affected by a variable neurodevelopmental phenotype harboring a heterozygous frameshift or nonsense variant affecting all ANK3 transcripts. Thus, we provide further evidence of an isoform-based phenotypic continuum underlying ANK3-associated pathologies and expand its phenotypic spectrum.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Kloth, Katja UNSPECIFIED UNSPECIFIED UNSPECIFIED Lozic, Bernarda UNSPECIFIED UNSPECIFIED UNSPECIFIED Tagoe, Julia UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoffer, Mariette J. V. UNSPECIFIED UNSPECIFIED UNSPECIFIED Van der Ven, Amelie UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Kubisch, Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED Au, Ping Yee Billie UNSPECIFIED UNSPECIFIED UNSPECIFIED Denecke, Jonas UNSPECIFIED UNSPECIFIED UNSPECIFIED Bijlsma, Emilia K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lessel, Davor UNSPECIFIED orcid.org/0000-0003-4496-244X UNSPECIFIED
URN:	urn:nbn:de:hbz:38-598552
DOI:	10.1007/s10048-021-00655-4
Journal or Publication Title:	Neurogenetics
Volume:	22
Number:	4
Page Range:	S. 263 - 270
Date:	2021
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	1364-6753
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DE-NOVO MUTATIONS; GIANT ANKYRIN-G; INTELLECTUAL DISABILITY; ISOFORMS; GENE; IDENTIFICATION; LOCALIZATION; NODES Multiple languages Genetics & Heredity; Clinical Neurology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/59855