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Article

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

European journal of human genetics : EJHG - 1 Mar 2022

Dingemans Alexander J M, Truijen Kim M G, Kim Jung-Hyun, Alaçam Zahide, Faivre Laurence, Collins Kathleen M, Gerkes Erica H, van Haelst Mieke, van de Laar Ingrid M B H, Lindstrom Kristin, Nizon Mathilde, Pauling James, Heropolitańska-Pliszka Edyta, Plomp Astrid S, Racine Caroline, Sachdev Rani, Sinnema Margje, Skranes Jon, Veenstra-Knol Hermine E, Verberne Eline A, Vulto-van Silfhout Anneke T, Wilsterman Marlon E F, Ahn Eun-Young Erin, de Vries Bert B A, Vissers Lisenka E L M

Abstract excerpt

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. Its encoded protein promotes pre-mRNA splicing of many genes essential for development. Whereas individual phenotypic traits have previously been linked to erroneous splicing of SON target genes, the phenotypic spectrum and the pathogenicity of...

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DNA-Binding Proteins
Intellectual Disability
Minor Histocompatibility Antigens

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

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PMID: 34521999
DOI: 10.1038/s41431-021-00960-4
PMCID: PMC8904542

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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.PMID 34521999Read ↗

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