Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome

Hishimura, Nozomi; Watari, Michiko; Ohata, Hiroki; Fuseya, Naho; Wakiguchi, Sadae; Tokutomi, Tomoharu; Okuhara, Koji; Takahashi, Nobuhiro; Iizuka, Susumu; Yamamoto, Hiroshi; Mishima, Takashi; Fujieda, Satoko; Kobayashi, Ryōji; Cho, Kazutoshi; Kuroda, Yukiko; Kurosawa, Kenji; Tonoki, Hidefumi

doi:10.1002/ccr3.738

Cited by 3 publications

(3 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…SNORD118 is involved in regulation of ribosome biology and associated with the hydrocephalic phenotype of Labrune syndrome, characterized by leukoencephalopathy, intracranial cysts, and calcification [ 105 ]. While the function of SETBP1 remains largely unknown, mutations in this gene are associated with Schinzel-Giedion syndrome, characterized by facial abnormalities, intellectual disability, congenital malformations, and HC [ 106 ]. SMARCB1 is involved in chromatin remodeling to further enhance or repress transcription [ 107 ].…”

Section: Resultsmentioning

confidence: 99%

The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact

Hale,

Boudreau,

Devulapalli

et al. 2024

Fluids Barriers CNS

View full text Add to dashboard Cite

Hydrocephalus (HC) is a heterogenous disease characterized by alterations in cerebrospinal fluid (CSF) dynamics that may cause increased intracranial pressure. HC is a component of a wide array of genetic syndromes as well as a secondary consequence of brain injury (intraventricular hemorrhage (IVH), infection, etc.) that can present across the age spectrum, highlighting the phenotypic heterogeneity of the disease. Surgical treatments include ventricular shunting and endoscopic third ventriculostomy with or without choroid plexus cauterization, both of which are prone to failure, and no effective pharmacologic treatments for HC have been developed. Thus, there is an urgent need to understand the genetic architecture and molecular pathogenesis of HC. Without this knowledge, the development of preventive, diagnostic, and therapeutic measures is impeded. However, the genetics of HC is extraordinarily complex, based on studies of varying size, scope, and rigor. This review serves to provide a comprehensive overview of genes, pathways, mechanisms, and global impact of genetics contributing to all etiologies of HC in humans.

show abstract

Section: Resultsmentioning

confidence: 99%

The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact

Hale,

Boudreau,

Devulapalli

et al. 2024

Fluids Barriers CNS

View full text Add to dashboard Cite

show abstract

“…SNORD118 is involved in regulation of ribosome biology and associated with the hydrocephalic phenotype of Labrune syndrome, characterized by leukoencephalopathy, intracranial cysts, and calcification [98]. While the function of SETBP1 remains largely unknown, mutations in this gene are associated with Schinzel-Giedion syndrome, characterized by facial abnormalities, intellectual disability, congenital malformations, and HC [99]. SMARCB1 is involved in chromatin remodeling to further enhance or repress transcription [100].…”

Section: Transcriptional Post-transcriptional and Epigenetic Regulationmentioning

confidence: 99%

The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact

Hale,

Boudreau,

Devulapalli

et al. 2023

Preprint

View full text Add to dashboard Cite

Hydrocephalus (HC) is a heterogenous disease characterized by alterations in cerebrospinal fluid (CSF) dynamics that may cause increased intracranial pressure. HC is a component of a wide array of genetic syndromes as well as a secondary consequence of brain injury (intraventricular hemorrhage (IVH), infection, etc.), highlighting the phenotypic heterogeneity of the disease. Surgical treatments include ventricular shunting and endoscopic third ventriculostomy with or without choroid plexus cauterization, both of which are prone to failure, and no effective pharmacologic treatments for HC have been developed. Thus, there is an urgent need to understand the genetic architecture and molecular pathogenesis of HC. Without this knowledge, the development of preventive, diagnostic, and therapeutic measures is impeded. However, the genetics of HC is extraordinarily complex, based on studies of varying size, scope, and rigor. This review serves to provide a comprehensive overview of genes, pathways, mechanisms, and global impact of genetics contributing to all etiologies of HC in humans.

show abstract

“…The discovery of heterozygous mutations in the SETBP1 gene by Hoischen et al elucidated SGS inheritance as de novo dominant autosomal. To date 26 molecularly confirmed cases have been reported [ 22 , 27 – 36 ].…”

Section: Setbp1 In Congenital Diseasementioning

confidence: 99%

SETBP1 dysregulation in congenital disorders and myeloid neoplasms

et al. 2017

View full text Add to dashboard Cite

Myeloid malignancies are characterized by an extreme molecular heterogeneity, and many efforts have been made in the past decades to clarify the mechanisms underlying their pathogenesis.In this scenario SET binding protein 1 (SETBP1) has attracted a lot of interest as a new oncogene and potential marker, in addition to its involvement in the Schinzel-Giedon syndrome (SGS). Our review starts with the analysis of the structural characteristics of SETBP1, and extends to its corresponding physiological and pathological functions. Next, we describe the prevalence of SETBP1 mutations in congenital diseases and in hematologic malignancies, exploring how its alterations might contribute to tumor development and provoke clinical effects. Finally, we consider to understand how SETBP1 activation could be exploited in molecular medicine to enhance the cure rate.

show abstract

Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome

Cited by 3 publications

References 13 publications

The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact

The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact

The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact

SETBP1 dysregulation in congenital disorders and myeloid neoplasms

Contact Info

Product

Resources

About