Naslov
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of- function variants

Autori
Kloth, Katja ; Lozic, Bernarda ; Tagoe, Julia ; Hoffer, Mariëtte J V ; Van der Ven, Amelie ; Thiele, Holger ; Altmüller, Janine ; Kubisch, Christian ; Au, Ping Yee Billie ; Denecke, Jonas ; Bijlsma. Emilia K ; Lessel, Davor

Izvornik
Neurogenetics (1364-6745) 22 (2021), 4; 263-269

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
ANK3 ; Ankyrin-G ; Developmental delay ; Intellectual disability ; Isoform-based phenotypic continuum

Sažetak
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

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA