CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation
Clin Genet. 2024 Jan 3. doi: 10.1111/cge.14476. Online ahead of print.ABSTRACTCCDC88C gene, which encodes coiled-coil domain containing 88C, is essential for cell communication during neural development. Variants in the CCDC88C caused congenital hydrocephalus, some accompanied by seizures. In patients with epilepsy without acquired etiologies, we performed whole-exome sequencing (trio-based). Two de novo and two biallelic CCDC88C variants were identified in four cases with focal (partial) epilepsy. These variants did not present or had low frequencies in the gnomAD populations and were predicted to be damaging by multiple ...
Source: Clinical Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: Yu-Jie Chen Wen-Jie Wang Dong-Fang Zou Jun-Xia Luo Pei-Yan Jin Liang Jin Xiao-Rong Liu Wei-Ping Liao Bin Li Yong-Jun Chen China Epilepsy Gene 1.0 Project Source Type: research
Therapeutic strategies for aberrant splicing in cancer and genetic disorders
Clin Genet. 2024 Jan 2. doi: 10.1111/cge.14478. Online ahead of print.ABSTRACTAccurate pre-mRNA splicing is essential for proper protein translation; however, aberrant splicing is commonly observed in the context of cancer and genetic disorders. Notably, in genetic diseases, these splicing abnormalities often play a pivotal role. Substantial challenges persist in accurately identifying and classifying disease-induced aberrant splicing, as well as in development of targeted therapeutic strategies. In this review, we examine prevalent forms of aberrant splicing and explore potential therapeutic approaches aimed at addressing...
Source: Clinical Genetics - January 2, 2024 Category: Genetics & Stem Cells Authors: Wenhua Shi Jingqun Tang Juanjuan Xiang Source Type: research
Therapeutic strategies for aberrant splicing in cancer and genetic disorders
Clin Genet. 2024 Jan 2. doi: 10.1111/cge.14478. Online ahead of print.ABSTRACTAccurate pre-mRNA splicing is essential for proper protein translation; however, aberrant splicing is commonly observed in the context of cancer and genetic disorders. Notably, in genetic diseases, these splicing abnormalities often play a pivotal role. Substantial challenges persist in accurately identifying and classifying disease-induced aberrant splicing, as well as in development of targeted therapeutic strategies. In this review, we examine prevalent forms of aberrant splicing and explore potential therapeutic approaches aimed at addressing...
Source: Clinical Genetics - January 2, 2024 Category: Genetics & Stem Cells Authors: Wenhua Shi Jingqun Tang Juanjuan Xiang Source Type: research
Therapeutic strategies for aberrant splicing in cancer and genetic disorders
Clin Genet. 2024 Jan 2. doi: 10.1111/cge.14478. Online ahead of print.ABSTRACTAccurate pre-mRNA splicing is essential for proper protein translation; however, aberrant splicing is commonly observed in the context of cancer and genetic disorders. Notably, in genetic diseases, these splicing abnormalities often play a pivotal role. Substantial challenges persist in accurately identifying and classifying disease-induced aberrant splicing, as well as in development of targeted therapeutic strategies. In this review, we examine prevalent forms of aberrant splicing and explore potential therapeutic approaches aimed at addressing...
Source: Clinical Genetics - January 2, 2024 Category: Genetics & Stem Cells Authors: Wenhua Shi Jingqun Tang Juanjuan Xiang Source Type: research
Identifying candidate genes underlying isolated congenital anosmia
This study provides a more comprehensive understanding of the spectrum of genetic alterations and their etiology in ICA patients, which may improve the diagnosis, prognosis, and treatment of this disorder and lead to better understanding of the mechanisms governing basic olfactory function.PMID:38148624 | DOI:10.1111/cge.14470 (Source: Clinical Genetics)
Source: Clinical Genetics - December 27, 2023 Category: Genetics & Stem Cells Authors: Marissa L Kamarck Casey Trimmer Nicolle R Murphy Kristen M Gregory Diogo Manoel Darren W Logan Luis R Saraiva Joel D Mainland Source Type: research
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology
Clin Genet. 2023 Dec 27. doi: 10.1111/cge.14467. Online ahead of print.ABSTRACTVariants in EPHB4 (Ephrin type B receptor 4), a transmembrane tyrosine kinase receptor, have been identified in individuals with various vascular anomalies including Capillary Malformation-Arteriovenous Malformation syndrome 2 and lymphatic-related (non-immune) fetal hydrops (LRHF). Here, we identify two novel variants in EPHB4 that disrupt the SAM domain in two unrelated individuals. Proband 1 presented within the LRHF phenotypic spectrum with hydrops, and proband 2 presented with large nuchal translucency prenatally that spontaneously resolved...
Source: Clinical Genetics - December 27, 2023 Category: Genetics & Stem Cells Authors: Kara Vanden Broek Jae-Ryeon Ryu Renee Perrier Amanda V Tyndall Sarah J Childs Ping Yee Billie Au Source Type: research
Identifying candidate genes underlying isolated congenital anosmia
This study provides a more comprehensive understanding of the spectrum of genetic alterations and their etiology in ICA patients, which may improve the diagnosis, prognosis, and treatment of this disorder and lead to better understanding of the mechanisms governing basic olfactory function.PMID:38148624 | DOI:10.1111/cge.14470 (Source: Clinical Genetics)
Source: Clinical Genetics - December 27, 2023 Category: Genetics & Stem Cells Authors: Marissa L Kamarck Casey Trimmer Nicolle R Murphy Kristen M Gregory Diogo Manoel Darren W Logan Luis R Saraiva Joel D Mainland Source Type: research
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology
Clin Genet. 2023 Dec 27. doi: 10.1111/cge.14467. Online ahead of print.ABSTRACTVariants in EPHB4 (Ephrin type B receptor 4), a transmembrane tyrosine kinase receptor, have been identified in individuals with various vascular anomalies including Capillary Malformation-Arteriovenous Malformation syndrome 2 and lymphatic-related (non-immune) fetal hydrops (LRHF). Here, we identify two novel variants in EPHB4 that disrupt the SAM domain in two unrelated individuals. Proband 1 presented within the LRHF phenotypic spectrum with hydrops, and proband 2 presented with large nuchal translucency prenatally that spontaneously resolved...
Source: Clinical Genetics - December 27, 2023 Category: Genetics & Stem Cells Authors: Kara Vanden Broek Jae-Ryeon Ryu Renee Perrier Amanda V Tyndall Sarah J Childs Ping Yee Billie Au Source Type: research
Identifying candidate genes underlying isolated congenital anosmia
This study provides a more comprehensive understanding of the spectrum of genetic alterations and their etiology in ICA patients, which may improve the diagnosis, prognosis, and treatment of this disorder and lead to better understanding of the mechanisms governing basic olfactory function.PMID:38148624 | DOI:10.1111/cge.14470 (Source: Clinical Genetics)
Source: Clinical Genetics - December 27, 2023 Category: Genetics & Stem Cells Authors: Marissa L Kamarck Casey Trimmer Nicolle R Murphy Kristen M Gregory Diogo Manoel Darren W Logan Luis R Saraiva Joel D Mainland Source Type: research
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology
Clin Genet. 2023 Dec 27. doi: 10.1111/cge.14467. Online ahead of print.ABSTRACTVariants in EPHB4 (Ephrin type B receptor 4), a transmembrane tyrosine kinase receptor, have been identified in individuals with various vascular anomalies including Capillary Malformation-Arteriovenous Malformation syndrome 2 and lymphatic-related (non-immune) fetal hydrops (LRHF). Here, we identify two novel variants in EPHB4 that disrupt the SAM domain in two unrelated individuals. Proband 1 presented within the LRHF phenotypic spectrum with hydrops, and proband 2 presented with large nuchal translucency prenatally that spontaneously resolved...
Source: Clinical Genetics - December 27, 2023 Category: Genetics & Stem Cells Authors: Kara Vanden Broek Jae-Ryeon Ryu Renee Perrier Amanda V Tyndall Sarah J Childs Ping Yee Billie Au Source Type: research
Identifying candidate genes underlying isolated congenital anosmia
This study provides a more comprehensive understanding of the spectrum of genetic alterations and their etiology in ICA patients, which may improve the diagnosis, prognosis, and treatment of this disorder and lead to better understanding of the mechanisms governing basic olfactory function.PMID:38148624 | DOI:10.1111/cge.14470 (Source: Clinical Genetics)
Source: Clinical Genetics - December 27, 2023 Category: Genetics & Stem Cells Authors: Marissa L Kamarck Casey Trimmer Nicolle R Murphy Kristen M Gregory Diogo Manoel Darren W Logan Luis R Saraiva Joel D Mainland Source Type: research
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology
Clin Genet. 2023 Dec 27. doi: 10.1111/cge.14467. Online ahead of print.ABSTRACTVariants in EPHB4 (Ephrin type B receptor 4), a transmembrane tyrosine kinase receptor, have been identified in individuals with various vascular anomalies including Capillary Malformation-Arteriovenous Malformation syndrome 2 and lymphatic-related (non-immune) fetal hydrops (LRHF). Here, we identify two novel variants in EPHB4 that disrupt the SAM domain in two unrelated individuals. Proband 1 presented within the LRHF phenotypic spectrum with hydrops, and proband 2 presented with large nuchal translucency prenatally that spontaneously resolved...
Source: Clinical Genetics - December 27, 2023 Category: Genetics & Stem Cells Authors: Kara Vanden Broek Jae-Ryeon Ryu Renee Perrier Amanda V Tyndall Sarah J Childs Ping Yee Billie Au Source Type: research
Identifying candidate genes underlying isolated congenital anosmia
This study provides a more comprehensive understanding of the spectrum of genetic alterations and their etiology in ICA patients, which may improve the diagnosis, prognosis, and treatment of this disorder and lead to better understanding of the mechanisms governing basic olfactory function.PMID:38148624 | DOI:10.1111/cge.14470 (Source: Clinical Genetics)
Source: Clinical Genetics - December 27, 2023 Category: Genetics & Stem Cells Authors: Marissa L Kamarck Casey Trimmer Nicolle R Murphy Kristen M Gregory Diogo Manoel Darren W Logan Luis R Saraiva Joel D Mainland Source Type: research
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology
Clin Genet. 2023 Dec 27. doi: 10.1111/cge.14467. Online ahead of print.ABSTRACTVariants in EPHB4 (Ephrin type B receptor 4), a transmembrane tyrosine kinase receptor, have been identified in individuals with various vascular anomalies including Capillary Malformation-Arteriovenous Malformation syndrome 2 and lymphatic-related (non-immune) fetal hydrops (LRHF). Here, we identify two novel variants in EPHB4 that disrupt the SAM domain in two unrelated individuals. Proband 1 presented within the LRHF phenotypic spectrum with hydrops, and proband 2 presented with large nuchal translucency prenatally that spontaneously resolved...
Source: Clinical Genetics - December 27, 2023 Category: Genetics & Stem Cells Authors: Kara Vanden Broek Jae-Ryeon Ryu Renee Perrier Amanda V Tyndall Sarah J Childs Ping Yee Billie Au Source Type: research
A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia
Clin Genet. 2023 Dec 26. doi: 10.1111/cge.14473. Online ahead of print.ABSTRACTNonobstructive azoospermia (NOA), the most severe manifestation of male infertility, lacks a comprehensive understanding of its genetic etiology. Here, a bi-allelic loss-of-function variant in REC114 (c.568C > T: p.Gln190*) were identified through whole exome sequencing (WES) in a Chinese NOA patient. Testicular histopathological analysis and meiotic chromosomal spread analysis were conducted to assess the stage of spermatogenesis arrested. Co-immunoprecipitation (Co-IP) and Western blot (WB) were used to investigate the influence of variant ...
Source: Clinical Genetics - December 26, 2023 Category: Genetics & Stem Cells Authors: Shuai Xu Jingpeng Zhao Feng Gao Yuxiang Zhang Jiaqiang Luo Chenwang Zhang Ruhui Tian Erlei Zhi Jianxiong Zhang Furong Bai Hongfang Sun Fujun Zhao Yuhua Huang Peng Li Liren Jiang Zheng Li Chencheng Yao Zhi Zhou Source Type: research
