DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis
Clin Genet. 2023 Oct 30. doi: 10.1111/cge.14427. Online ahead of print.ABSTRACTDilated cardiomyopathy (DCM) is a heart disease characterized by left ventricular dilatation and systolic dysfunction. In 30% of cases, pathogenic variants, essentially private to each patient, are identified in at least one of almost 50 reported genes. Thus, while costly, exons capture-based Next Generation Sequencing (NGS) of a targeted gene panel appears as the best strategy to genetically diagnose DCM. Here, we report a NGS strategy applied to pools of 8 DNAs from DCM patients and validate its robustness for rare variants detection at 4-fold...
Source: Clinical Genetics - October 31, 2023 Category: Genetics & Stem Cells Authors: Claire Perret Carole Proust Ulrike Esslinger Flavie Ader Jan Haas Jean-Fran çois Pruny Richard Isnard Pascale Richard David-Alexandre Tr égouët Philippe Charron Fran çois Cambien Eric Villard Source Type: research
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
This article describes 34 additional patients to those already reported, contributing with 25 novel variants and a deep phenotypic characterization. A clinical review of our cohort of DDX3X-NDD patients is performed comparing them to those previously published.PMID:37904618 | DOI:10.1111/cge.14440 (Source: Clinical Genetics)
Source: Clinical Genetics - October 31, 2023 Category: Genetics & Stem Cells Authors: Alejandro Parra Patricia Pascual Mario Cazalla Pedro Arias Natalia Gallego-Zazo Esteban A San-Mart ín Cristina Silv án Fernando Santos-Simarro Spanish OverGrowth Registry Initiative (SOGRI) Juli án Nevado Jair Tenorio-Castano Pablo Lapunzina Source Type: research
DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis
Clin Genet. 2023 Oct 30. doi: 10.1111/cge.14427. Online ahead of print.ABSTRACTDilated cardiomyopathy (DCM) is a heart disease characterized by left ventricular dilatation and systolic dysfunction. In 30% of cases, pathogenic variants, essentially private to each patient, are identified in at least one of almost 50 reported genes. Thus, while costly, exons capture-based Next Generation Sequencing (NGS) of a targeted gene panel appears as the best strategy to genetically diagnose DCM. Here, we report a NGS strategy applied to pools of 8 DNAs from DCM patients and validate its robustness for rare variants detection at 4-fold...
Source: Clinical Genetics - October 31, 2023 Category: Genetics & Stem Cells Authors: Claire Perret Carole Proust Ulrike Esslinger Flavie Ader Jan Haas Jean-Fran çois Pruny Richard Isnard Pascale Richard David-Alexandre Tr égouët Philippe Charron Fran çois Cambien Eric Villard Source Type: research
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
This article describes 34 additional patients to those already reported, contributing with 25 novel variants and a deep phenotypic characterization. A clinical review of our cohort of DDX3X-NDD patients is performed comparing them to those previously published.PMID:37904618 | DOI:10.1111/cge.14440 (Source: Clinical Genetics)
Source: Clinical Genetics - October 31, 2023 Category: Genetics & Stem Cells Authors: Alejandro Parra Patricia Pascual Mario Cazalla Pedro Arias Natalia Gallego-Zazo Esteban A San-Mart ín Cristina Silv án Fernando Santos-Simarro Spanish OverGrowth Registry Initiative (SOGRI) Juli án Nevado Jair Tenorio-Castano Pablo Lapunzina Source Type: research
DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis
Clin Genet. 2023 Oct 30. doi: 10.1111/cge.14427. Online ahead of print.ABSTRACTDilated cardiomyopathy (DCM) is a heart disease characterized by left ventricular dilatation and systolic dysfunction. In 30% of cases, pathogenic variants, essentially private to each patient, are identified in at least one of almost 50 reported genes. Thus, while costly, exons capture-based Next Generation Sequencing (NGS) of a targeted gene panel appears as the best strategy to genetically diagnose DCM. Here, we report a NGS strategy applied to pools of 8 DNAs from DCM patients and validate its robustness for rare variants detection at 4-fold...
Source: Clinical Genetics - October 31, 2023 Category: Genetics & Stem Cells Authors: Claire Perret Carole Proust Ulrike Esslinger Flavie Ader Jan Haas Jean-Fran çois Pruny Richard Isnard Pascale Richard David-Alexandre Tr égouët Philippe Charron Fran çois Cambien Eric Villard Source Type: research
De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype
In this study, we present a family with four affected individuals across two generations with a deletion spanning a conserved upstream LMX1B-binding sequence. This deletion is de novo in the mother of three affected children. Furthermore, in this family, the manifestations appear limited to the nails and limbs, and therefore may reflect an attenuated phenotype of the classic Nail-Patella phenotype that includes ophthalmological and renal manifestations.PMID:37899549 | DOI:10.1111/cge.14447 (Source: Clinical Genetics)
Source: Clinical Genetics - October 30, 2023 Category: Genetics & Stem Cells Authors: David Francis Paula Lall Samantha Ayres Nicole J Van Bergen John Christodoulou Natasha J Brown Paul Kalitsis Source Type: research
Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins
Clin Genet. 2023 Oct 29. doi: 10.1111/cge.14443. Online ahead of print.ABSTRACTThe investigation of environmental effects on clinical measurements using individual samples is challenging because their genetic and environmental factors are different. However, using monozygotic twins (MZ) makes it possible to investigate the influence of environmental factors as they have the same genetic factors within pairs because the difference in the clinical traits within the MZ mostly reflect the influence of environmental factors. We hypothesized that the within-pair differences in the traits that are strongly affected by genetic fac...
Source: Clinical Genetics - October 30, 2023 Category: Genetics & Stem Cells Authors: Jumpei Taniguchi Tatsuo Masuda Yoshinori Iwatani Kenichi Yamamoto Osaka Twin Research Group Norio Sakai Yukinori Okada Mikio Watanabe Source Type: research
Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability
This report describes the phenotypic consequences of duplication of 22 individual XLID genes, of which 10 are described for the first time.PMID:37899624 | DOI:10.1111/cge.14445 (Source: Clinical Genetics)
Source: Clinical Genetics - October 30, 2023 Category: Genetics & Stem Cells Authors: Nikhil Sahajpal Catherine Ziats Alka Chaubey Barbara R DuPont Fatima Abidi Charles E Schwartz Roger E Stevenson Source Type: research
Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene
We report for the first time, early-adulthood-onset progressive ataxia, opthalmoparesis, and hypogonadotropic hypogonadism in GOSHS.PMID:37903629 | DOI:10.1111/cge.14448 (Source: Clinical Genetics)
Source: Clinical Genetics - October 30, 2023 Category: Genetics & Stem Cells Authors: Joshua Chin Ern Ooi Amelia Azman Mei-Yan Chan Emilia Sheau Yuin Toh Go Hun Seo Ji Hye Kim Yusnita Yakob Yuen Kang Chia Source Type: research
De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype
In this study, we present a family with four affected individuals across two generations with a deletion spanning a conserved upstream LMX1B-binding sequence. This deletion is de novo in the mother of three affected children. Furthermore, in this family, the manifestations appear limited to the nails and limbs, and therefore may reflect an attenuated phenotype of the classic Nail-Patella phenotype that includes ophthalmological and renal manifestations.PMID:37899549 | DOI:10.1111/cge.14447 (Source: Clinical Genetics)
Source: Clinical Genetics - October 30, 2023 Category: Genetics & Stem Cells Authors: David Francis Paula Lall Samantha Ayres Nicole J Van Bergen John Christodoulou Natasha J Brown Paul Kalitsis Source Type: research
Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins
Clin Genet. 2023 Oct 29. doi: 10.1111/cge.14443. Online ahead of print.ABSTRACTThe investigation of environmental effects on clinical measurements using individual samples is challenging because their genetic and environmental factors are different. However, using monozygotic twins (MZ) makes it possible to investigate the influence of environmental factors as they have the same genetic factors within pairs because the difference in the clinical traits within the MZ mostly reflect the influence of environmental factors. We hypothesized that the within-pair differences in the traits that are strongly affected by genetic fac...
Source: Clinical Genetics - October 30, 2023 Category: Genetics & Stem Cells Authors: Jumpei Taniguchi Tatsuo Masuda Yoshinori Iwatani Kenichi Yamamoto Osaka Twin Research Group Norio Sakai Yukinori Okada Mikio Watanabe Source Type: research
Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability
This report describes the phenotypic consequences of duplication of 22 individual XLID genes, of which 10 are described for the first time.PMID:37899624 | DOI:10.1111/cge.14445 (Source: Clinical Genetics)
Source: Clinical Genetics - October 30, 2023 Category: Genetics & Stem Cells Authors: Nikhil Sahajpal Catherine Ziats Alka Chaubey Barbara R DuPont Fatima Abidi Charles E Schwartz Roger E Stevenson Source Type: research
The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant
Clin Genet. 2023 Oct 23. doi: 10.1111/cge.14441. Online ahead of print.ABSTRACTMarbach-Rustad progeroid syndrome is an extremely rare disease caused by a heterozygous variant in the LEMD2 gene. To date, only two patients and one LEMD2 pathogenic variant have been reported in Marbach-Rustad progeroid syndrome. Here we describe the third case of Marbach-Rustad progeroid syndrome worldwide, which is also the first case in China. The proband was affected with premature birth, failed to thrive, facial abnormalities, feeding difficulties, skull defects and delayed motor milestones, but had a normal intelligence and speech. Whole...
Source: Clinical Genetics - October 23, 2023 Category: Genetics & Stem Cells Authors: Zhikun Lu Wen Zhang Xiaojian Mao Duan Li Xiaodan Chen Li Liu Yunting Lin Source Type: research
The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant
Clin Genet. 2023 Oct 23. doi: 10.1111/cge.14441. Online ahead of print.ABSTRACTMarbach-Rustad progeroid syndrome is an extremely rare disease caused by a heterozygous variant in the LEMD2 gene. To date, only two patients and one LEMD2 pathogenic variant have been reported in Marbach-Rustad progeroid syndrome. Here we describe the third case of Marbach-Rustad progeroid syndrome worldwide, which is also the first case in China. The proband was affected with premature birth, failed to thrive, facial abnormalities, feeding difficulties, skull defects and delayed motor milestones, but had a normal intelligence and speech. Whole...
Source: Clinical Genetics - October 23, 2023 Category: Genetics & Stem Cells Authors: Zhikun Lu Wen Zhang Xiaojian Mao Duan Li Xiaodan Chen Li Liu Yunting Lin Source Type: research
The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant
Clin Genet. 2023 Oct 23. doi: 10.1111/cge.14441. Online ahead of print.ABSTRACTMarbach-Rustad progeroid syndrome is an extremely rare disease caused by a heterozygous variant in the LEMD2 gene. To date, only two patients and one LEMD2 pathogenic variant have been reported in Marbach-Rustad progeroid syndrome. Here we describe the third case of Marbach-Rustad progeroid syndrome worldwide, which is also the first case in China. The proband was affected with premature birth, failed to thrive, facial abnormalities, feeding difficulties, skull defects and delayed motor milestones, but had a normal intelligence and speech. Whole...
Source: Clinical Genetics - October 23, 2023 Category: Genetics & Stem Cells Authors: Zhikun Lu Wen Zhang Xiaojian Mao Duan Li Xiaodan Chen Li Liu Yunting Lin Source Type: research
