{"title":"Snijders Blok-Campeau 综合征:一种新型神经发育遗传疾病","authors":"O. Yushchuk, I. Ruda, V. Fedorenko","doi":"10.30970/vlubs.2024.91.04","DOIUrl":null,"url":null,"abstract":"Snijders Blok-Campeau syndrome is a recently discovered genetic disorder characterized by childhood apraxia of speech, delays in intellectual development, and a plethora of other neurodevelopmental disorders (e.g., vision disorders, muscle atony, etc.). In most cases, Snijders Blok-Campeau syndrome results from de novo mutations in the CHD3 gene, which encodes chromodomain-helicase-DNA-binding protein 3 (CHD3). However, the literature also describes cases of inherited mutations in CHD3. In these cases, heterozygous parents carrying a mutant variant in the CHD3 gene may lack features of Snijders Blok-Campeau syndrome or exhibit a mild manifestation of the syndrome, while their offspring, carrying the same CHD3 mutations in heterozygous form, exhibit a complete set of features of Snijders Blok-Campeau syndrome. This phenomenon has yet to be clearly explained. Only two cases of Snijders Blok-Campeau syndrome caused by homozygous CHD3 mutations have been described in the literature. Notably, the majority of described mutations in CHD3 are point missense mutations. CHD3 is a chromatin remodeling protein and a crucial component of the nucleosome remodeling and deacetylase (NuRD) complex, which is important for gene regulation during brain development. The two-domain region of CHD3 with ATP-dependent helicase activity is the most important part of the protein. Although the majority of mutations causing Snijders Blok-Campeau syndrome are found in the part of CHD3 encoding this region with ATP-dependent helicase activity, it has been impossible to draw a clear correlation between the localization of the mutations and the severity of the phenotype. To date, no documented cases of Snijders Blok-Campeau syndrome have been reported in Ukraine. In this work, we aim to provide a comprehensive review of the features of Snijders Blok-Campeau syndrome to facilitate identification and genetic diagnostics of the syndrome.","PeriodicalId":173155,"journal":{"name":"Visnyk of Lviv University. Biological series","volume":" 8","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Snijders Blok-Campeau syndrome: a novel neurodevelopmental genetic disorder\",\"authors\":\"O. Yushchuk, I. Ruda, V. Fedorenko\",\"doi\":\"10.30970/vlubs.2024.91.04\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Snijders Blok-Campeau syndrome is a recently discovered genetic disorder characterized by childhood apraxia of speech, delays in intellectual development, and a plethora of other neurodevelopmental disorders (e.g., vision disorders, muscle atony, etc.). In most cases, Snijders Blok-Campeau syndrome results from de novo mutations in the CHD3 gene, which encodes chromodomain-helicase-DNA-binding protein 3 (CHD3). However, the literature also describes cases of inherited mutations in CHD3. In these cases, heterozygous parents carrying a mutant variant in the CHD3 gene may lack features of Snijders Blok-Campeau syndrome or exhibit a mild manifestation of the syndrome, while their offspring, carrying the same CHD3 mutations in heterozygous form, exhibit a complete set of features of Snijders Blok-Campeau syndrome. This phenomenon has yet to be clearly explained. Only two cases of Snijders Blok-Campeau syndrome caused by homozygous CHD3 mutations have been described in the literature. Notably, the majority of described mutations in CHD3 are point missense mutations. CHD3 is a chromatin remodeling protein and a crucial component of the nucleosome remodeling and deacetylase (NuRD) complex, which is important for gene regulation during brain development. The two-domain region of CHD3 with ATP-dependent helicase activity is the most important part of the protein. Although the majority of mutations causing Snijders Blok-Campeau syndrome are found in the part of CHD3 encoding this region with ATP-dependent helicase activity, it has been impossible to draw a clear correlation between the localization of the mutations and the severity of the phenotype. To date, no documented cases of Snijders Blok-Campeau syndrome have been reported in Ukraine. In this work, we aim to provide a comprehensive review of the features of Snijders Blok-Campeau syndrome to facilitate identification and genetic diagnostics of the syndrome.\",\"PeriodicalId\":173155,\"journal\":{\"name\":\"Visnyk of Lviv University. 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Snijders Blok-Campeau syndrome: a novel neurodevelopmental genetic disorder
Snijders Blok-Campeau syndrome is a recently discovered genetic disorder characterized by childhood apraxia of speech, delays in intellectual development, and a plethora of other neurodevelopmental disorders (e.g., vision disorders, muscle atony, etc.). In most cases, Snijders Blok-Campeau syndrome results from de novo mutations in the CHD3 gene, which encodes chromodomain-helicase-DNA-binding protein 3 (CHD3). However, the literature also describes cases of inherited mutations in CHD3. In these cases, heterozygous parents carrying a mutant variant in the CHD3 gene may lack features of Snijders Blok-Campeau syndrome or exhibit a mild manifestation of the syndrome, while their offspring, carrying the same CHD3 mutations in heterozygous form, exhibit a complete set of features of Snijders Blok-Campeau syndrome. This phenomenon has yet to be clearly explained. Only two cases of Snijders Blok-Campeau syndrome caused by homozygous CHD3 mutations have been described in the literature. Notably, the majority of described mutations in CHD3 are point missense mutations. CHD3 is a chromatin remodeling protein and a crucial component of the nucleosome remodeling and deacetylase (NuRD) complex, which is important for gene regulation during brain development. The two-domain region of CHD3 with ATP-dependent helicase activity is the most important part of the protein. Although the majority of mutations causing Snijders Blok-Campeau syndrome are found in the part of CHD3 encoding this region with ATP-dependent helicase activity, it has been impossible to draw a clear correlation between the localization of the mutations and the severity of the phenotype. To date, no documented cases of Snijders Blok-Campeau syndrome have been reported in Ukraine. In this work, we aim to provide a comprehensive review of the features of Snijders Blok-Campeau syndrome to facilitate identification and genetic diagnostics of the syndrome.