Beyond the phenotype: Exploring inherited retinal diseases with targeted next-generation sequencing in a Turkish cohort
This study enhances the knowledge of clinical diagnoses, symptom onset, inheritance patterns, and genetic details for Turkish individuals with hereditary retinal disease. It contributes to broader health strategies by enabling comparisons with other studies.PMID:38576124 | DOI:10.1111/cge.14529 (Source: Clinical Genetics)
Source: Clinical Genetics - April 5, 2024 Category: Genetics & Stem Cells Authors: Busra Ozguc Caliskan Kubra Uslu Neslihan Sinim Kahraman Kuddusi Erkilic Ayse Oner Munis Dundar Source Type: research
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX
This study includes 39 suspected GSDs patients from unrelated families in China. Next-generation sequencing (NGS) was used to investigate the reason for their diseases at the genetic level. Finally, all 39 patients were diagnosed with GSDs, including 20 GSD-Ia, 4 GSD-VI, and 15 GSD IX (12 GSD-IXa patients and 3 GSD-IXb patients). Thirty-two mutations in G6PC1, PYGL, PHKA2, and PHKB genes were identified, with 14 of them being novel variants. The pathogenicity of novel variants was classified according to ACMG guildlines and predicted by in slico algorithms. Mutations p.L216L and p.R83H in G6PC1 gene may be the hot spot mut...
Source: Clinical Genetics - April 5, 2024 Category: Genetics & Stem Cells Authors: Jindan Yu Xiuxin Ling Lingli Chen Youhong Fang Haihua Lin Jingan Lou Yanqi Ren Jie Chen Source Type: research
Beyond the phenotype: Exploring inherited retinal diseases with targeted next-generation sequencing in a Turkish cohort
This study enhances the knowledge of clinical diagnoses, symptom onset, inheritance patterns, and genetic details for Turkish individuals with hereditary retinal disease. It contributes to broader health strategies by enabling comparisons with other studies.PMID:38576124 | DOI:10.1111/cge.14529 (Source: Clinical Genetics)
Source: Clinical Genetics - April 5, 2024 Category: Genetics & Stem Cells Authors: Busra Ozguc Caliskan Kubra Uslu Neslihan Sinim Kahraman Kuddusi Erkilic Ayse Oner Munis Dundar Source Type: research
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX
This study includes 39 suspected GSDs patients from unrelated families in China. Next-generation sequencing (NGS) was used to investigate the reason for their diseases at the genetic level. Finally, all 39 patients were diagnosed with GSDs, including 20 GSD-Ia, 4 GSD-VI, and 15 GSD IX (12 GSD-IXa patients and 3 GSD-IXb patients). Thirty-two mutations in G6PC1, PYGL, PHKA2, and PHKB genes were identified, with 14 of them being novel variants. The pathogenicity of novel variants was classified according to ACMG guildlines and predicted by in slico algorithms. Mutations p.L216L and p.R83H in G6PC1 gene may be the hot spot mut...
Source: Clinical Genetics - April 5, 2024 Category: Genetics & Stem Cells Authors: Jindan Yu Xiuxin Ling Lingli Chen Youhong Fang Haihua Lin Jingan Lou Yanqi Ren Jie Chen Source Type: research
Simplified detection of genetic background admixture using artificial intelligence
In this study, we compared and classified the known and self-reported genetic backgrounds from 1000 Genomes Project and admixed samples from GTEx projects using supervised, unsupervised and statistical classification methodologies. We developed a novel tool called Admix-AI that uses a one-dimensional convolutional neural network to understand and classify admixed genetic backgrounds using 213 DNA-marker based genetic background labels. Admix-AI can be used to discover admixed proportions in samples and ultimately aid personalized genomic medicine by identifying specific biomarker systems. We compared Admix-AI to the existi...
Source: Clinical Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Rini Pauly Frank Alexander Feltus Source Type: research
Simplified detection of genetic background admixture using artificial intelligence
In this study, we compared and classified the known and self-reported genetic backgrounds from 1000 Genomes Project and admixed samples from GTEx projects using supervised, unsupervised and statistical classification methodologies. We developed a novel tool called Admix-AI that uses a one-dimensional convolutional neural network to understand and classify admixed genetic backgrounds using 213 DNA-marker based genetic background labels. Admix-AI can be used to discover admixed proportions in samples and ultimately aid personalized genomic medicine by identifying specific biomarker systems. We compared Admix-AI to the existi...
Source: Clinical Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Rini Pauly Frank Alexander Feltus Source Type: research
Simplified detection of genetic background admixture using artificial intelligence
In this study, we compared and classified the known and self-reported genetic backgrounds from 1000 Genomes Project and admixed samples from GTEx projects using supervised, unsupervised and statistical classification methodologies. We developed a novel tool called Admix-AI that uses a one-dimensional convolutional neural network to understand and classify admixed genetic backgrounds using 213 DNA-marker based genetic background labels. Admix-AI can be used to discover admixed proportions in samples and ultimately aid personalized genomic medicine by identifying specific biomarker systems. We compared Admix-AI to the existi...
Source: Clinical Genetics - April 2, 2024 Category: Genetics & Stem Cells Authors: Rini Pauly Frank Alexander Feltus Source Type: research
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology
This study aimed to compare the distribution of FOXL2 variants in idiopathic POI/DOR (diminished ovarian reserve) and both types of BPES, and to determine the involvement of FOXL2 in non-syndromic forms of POI/DOR. We studied the whole coding region of the FOXL2 gene using next-generation sequencing in 1282 patients with non-syndromic POI/DOR. Each identified FOXL2 variant was compared to its frequency in the general population, considering ethnicity. Screening of the entire coding region of the FOXL2 gene allowed us to identify 10 different variants, including nine missense variants. Of the patients with POI/DOR, 14 (1%) ...
Source: Clinical Genetics - April 1, 2024 Category: Genetics & Stem Cells Authors: P énélope Jordan Camille Verebi B érénice Hervé Sandrine Perol Zeina Chakhtoura Carine Courtillot Anne Bachelot Daphn é Karila C éline Renard Virginie Grouthier Stanislas Mulot de la Croix Val érie Bernard Corinne Fouveaut Aude Brac de la Perri è Source Type: research
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication
Clin Genet. 2024 Apr 1. doi: 10.1111/cge.14525. Online ahead of print.ABSTRACTXq28 int22h-1/int22h-2 duplication is the result of non-allelic homologous recombination between int22h-1/int22h-2 repeats separated by 0.5 Mb. It is responsible for a syndromic form of intellectual disability (ID), with recurrent infections and atopic diseases. Minor defects, nonspecific facial dysmorphic features, and overweight have also been described. Half of female carriers have been reported with ID, whereas all reported evaluated born males present mild to moderate ID, suggesting complete penetrance. We collected data on 15 families from ...
Source: Clinical Genetics - April 1, 2024 Category: Genetics & Stem Cells Authors: Alexis Billes Mathilde Pujalte Guillaume Jedraszak Daniel Amsallem Elise Boudry-Labis Odile Boute Sonia Bouquillon Elise Brischoux-Boucher Patrick Callier Charles Coutton Anne-Laude Avice Denizet Klaus Dieterich Paul Kuentz James Lespinasse Beno ît Mazel Source Type: research
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity
Clin Genet. 2024 Mar 29. doi: 10.1111/cge.14524. Online ahead of print.ABSTRACTExome sequencing (ES) has identified biallelic kinesin family member 12 (KIF12) mutations as underlying neonatal cholestatic liver disease. We collected information on onset and progression of this entity. Among consecutively referred pediatric patients at our centers, diagnostic ES identified 4 patients with novel, biallelic KIF12 variants using the human GRCh38 reference sequence, as KIF12 remains incompletely annotated in the older reference sequence GRCh37. A review of these and of 21 reported patients with KIF12 variants found that presenta...
Source: Clinical Genetics - March 30, 2024 Category: Genetics & Stem Cells Authors: Georg-Friedrich Vogel Alexandra Podpeskar Dietmar Rieder Helin Salzer Dorota Garczarczyk-Asim Li Wang Kuerbanjiang Abuduxikuer Jian-She Wang Anke Scharrer Eissa Ali Faqeih Ali T Aseeri Julia Vodopiutz Andreas Heilos Judith Pichler Wolf-Dietrich Huber Thom Source Type: research
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity
Clin Genet. 2024 Mar 29. doi: 10.1111/cge.14524. Online ahead of print.ABSTRACTExome sequencing (ES) has identified biallelic kinesin family member 12 (KIF12) mutations as underlying neonatal cholestatic liver disease. We collected information on onset and progression of this entity. Among consecutively referred pediatric patients at our centers, diagnostic ES identified 4 patients with novel, biallelic KIF12 variants using the human GRCh38 reference sequence, as KIF12 remains incompletely annotated in the older reference sequence GRCh37. A review of these and of 21 reported patients with KIF12 variants found that presenta...
Source: Clinical Genetics - March 30, 2024 Category: Genetics & Stem Cells Authors: Georg-Friedrich Vogel Alexandra Podpeskar Dietmar Rieder Helin Salzer Dorota Garczarczyk-Asim Li Wang Kuerbanjiang Abuduxikuer Jian-She Wang Anke Scharrer Eissa Ali Faqeih Ali T Aseeri Julia Vodopiutz Andreas Heilos Judith Pichler Wolf-Dietrich Huber Thom Source Type: research
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity
Clin Genet. 2024 Mar 29. doi: 10.1111/cge.14524. Online ahead of print.ABSTRACTExome sequencing (ES) has identified biallelic kinesin family member 12 (KIF12) mutations as underlying neonatal cholestatic liver disease. We collected information on onset and progression of this entity. Among consecutively referred pediatric patients at our centers, diagnostic ES identified 4 patients with novel, biallelic KIF12 variants using the human GRCh38 reference sequence, as KIF12 remains incompletely annotated in the older reference sequence GRCh37. A review of these and of 21 reported patients with KIF12 variants found that presenta...
Source: Clinical Genetics - March 30, 2024 Category: Genetics & Stem Cells Authors: Georg-Friedrich Vogel Alexandra Podpeskar Dietmar Rieder Helin Salzer Dorota Garczarczyk-Asim Li Wang Kuerbanjiang Abuduxikuer Jian-She Wang Anke Scharrer Eissa Ali Faqeih Ali T Aseeri Julia Vodopiutz Andreas Heilos Judith Pichler Wolf-Dietrich Huber Thom Source Type: research
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome
In conclusion, CNVs is a prominent etiology of IESS. 1p36 deletion and 15q duplication occurred most frequently. CNV detection should be performed in patients with IESS of unknown causes, especially in children with craniofacial anomalies and microcephaly.PMID:38544467 | DOI:10.1111/cge.14520 (Source: Clinical Genetics)
Source: Clinical Genetics - March 28, 2024 Category: Genetics & Stem Cells Authors: Miaomiao Cheng Ling Bai Ying Yang Wenwei Liu Xueyang Niu Yi Chen Quanzhen Tan Xiaoling Yang Qixi Wu Han-Qing Zhao Yuehua Zhang Source Type: research
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis
Clin Genet. 2024 Mar 28. doi: 10.1111/cge.14522. Online ahead of print.ABSTRACTHypoxic-ischemic encephalopathy (HIE) occurs in up to 7 out of 1000 births and accounts for almost a quarter of neonatal deaths worldwide. Despite the name, many newborns with HIE have little evidence of perinatal hypoxia. We hypothesized that some infants with HIE have genetic disorders that resemble encephalopathy. We reviewed genetic results for newborns with HIE undergoing exome or genome sequencing at a clinical laboratory (2014-2022). Neonates were included if they had a diagnosis of HIE and were delivered ≥35 weeks. Neonates were exclud...
Source: Clinical Genetics - March 28, 2024 Category: Genetics & Stem Cells Authors: Christian M Parobek Roni Zemet Matthew A Shanahan Brian A Burnett Elizabeth Mizerik Jill A Rosenfeld Liesbeth Vossaert Steven L Clark Jill V Hunter Seema R Lalani Source Type: research
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome
In conclusion, CNVs is a prominent etiology of IESS. 1p36 deletion and 15q duplication occurred most frequently. CNV detection should be performed in patients with IESS of unknown causes, especially in children with craniofacial anomalies and microcephaly.PMID:38544467 | DOI:10.1111/cge.14520 (Source: Clinical Genetics)
Source: Clinical Genetics - March 28, 2024 Category: Genetics & Stem Cells Authors: Miaomiao Cheng Ling Bai Ying Yang Wenwei Liu Xueyang Niu Yi Chen Quanzhen Tan Xiaoling Yang Qixi Wu Han-Qing Zhao Yuehua Zhang Source Type: research
