ArticleMolecular brain2020
Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.
Article in Molecular brain, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 18 citations in OpenAlex.
- ZTTK Syndrome Expanding the Cardiac Phenotype: A Case of Shone's Complex With a NovelCase reports in genetics · 2026Article
- Article
- Biological pathways leading to septo-optic dysplasia: a review.Orphanet journal of rare diseases · 2025Review
- Control of striatal circuit development by the chromatin regulatorScience advances · 2025Article
- Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.Human genetics · 2024Review
- Review
- "Disruption of Golgi markers by two RILP-directed shRNAs in neurons: a new role for RILP or a neuron-specific off-target phenotype?"bioRxiv : the preprint server for biology · 2023Article
- Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.Frontiers in genetics · 2023Article
- Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.AJNR. American journal of neuroradiology · 2022Article
- Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.European journal of human genetics : EJHG · 2022Article
- ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.American journal of medical genetics. Part A · 2021Article
- A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome.Molecular genetics & genomic medicine · 2020Article
- Novel De Novo Heterozygous Variants in theChild neurology openArticle
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8 authors at 2 institutions in 1 country.
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Abstract
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, a rare congenital anomaly syndrome characterized by intellectual disability, brain malformation, facial dysmorphism, musculoskeletal abnormalities, and some visceral malformations is caused by de novo heterozygous mutations of the SON gene. The nuclear protein SON is involved in gene transcription and RNA splicing; however, the roles of SON in neural development remain undetermined. We investigated the effects of Son knockdown on neural development in mice and found that Son knockdown in neural progenitors resulted in defective migration during corticogenesis and reduced spine density on mature cortical neurons. The induction of human wild-type SON expression rescued these neural abnormalities, confirming that the abnormalities were caused by SON insufficiency. We also applied truncated SON proteins encoded by disease-associated mutant SON genes for rescue experiments and found that a truncated SON protein encoded by the most prevalent SON mutant found in ZTTK syndrome rescued the neural abnormalities while another much shorter mutant SON protein did not. These data indicate that SON insufficiency causes neuronal migration defects and dendritic spine abnormalities, which seem neuropathological bases of the neural symptoms of ZTTK syndrome. In addition, the results support that the neural abnormalities in ZTTK syndrome are caused by SON haploinsufficiency independent of the types of mutation that results in functional or dysfunctional proteins.
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