Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC
In this report, we present two families, one with a pathogenic variant in ZCCHC8 and another with a novel variant in TERC. In the literature, only one family has previously been reported with a ZCCHC8 variant and TBD symptoms. This family had multiple occurrences of pulmonary fibrosis and one case of bone marrow failure. In this paper, we present a second family with the same ZCCHC8 variant (p.Pro186Leu) and symptoms of TBD including pulmonary fibrosis, hematological disease, and elevated liver enzymes. The suspicion of TBD was confirmed with the measurement of short telomeres in the proband. In another family, we report a...
Source: Clinical Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Nikolaj Juul Nitschke Anne Marie Jelsig Charlotte Lautrup Malene Lundsgaard Marianne Tang Severinsen Jack Bernard Cowland Lisa Leth Maroun Mette Klarskov Andersen Kirsten Gr ønbæk Source Type: research
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC
In this report, we present two families, one with a pathogenic variant in ZCCHC8 and another with a novel variant in TERC. In the literature, only one family has previously been reported with a ZCCHC8 variant and TBD symptoms. This family had multiple occurrences of pulmonary fibrosis and one case of bone marrow failure. In this paper, we present a second family with the same ZCCHC8 variant (p.Pro186Leu) and symptoms of TBD including pulmonary fibrosis, hematological disease, and elevated liver enzymes. The suspicion of TBD was confirmed with the measurement of short telomeres in the proband. In another family, we report a...
Source: Clinical Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Nikolaj Juul Nitschke Anne Marie Jelsig Charlotte Lautrup Malene Lundsgaard Marianne Tang Severinsen Jack Bernard Cowland Lisa Leth Maroun Mette Klarskov Andersen Kirsten Gr ønbæk Source Type: research
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC
In this report, we present two families, one with a pathogenic variant in ZCCHC8 and another with a novel variant in TERC. In the literature, only one family has previously been reported with a ZCCHC8 variant and TBD symptoms. This family had multiple occurrences of pulmonary fibrosis and one case of bone marrow failure. In this paper, we present a second family with the same ZCCHC8 variant (p.Pro186Leu) and symptoms of TBD including pulmonary fibrosis, hematological disease, and elevated liver enzymes. The suspicion of TBD was confirmed with the measurement of short telomeres in the proband. In another family, we report a...
Source: Clinical Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Nikolaj Juul Nitschke Anne Marie Jelsig Charlotte Lautrup Malene Lundsgaard Marianne Tang Severinsen Jack Bernard Cowland Lisa Leth Maroun Mette Klarskov Andersen Kirsten Gr ønbæk Source Type: research
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC
In this report, we present two families, one with a pathogenic variant in ZCCHC8 and another with a novel variant in TERC. In the literature, only one family has previously been reported with a ZCCHC8 variant and TBD symptoms. This family had multiple occurrences of pulmonary fibrosis and one case of bone marrow failure. In this paper, we present a second family with the same ZCCHC8 variant (p.Pro186Leu) and symptoms of TBD including pulmonary fibrosis, hematological disease, and elevated liver enzymes. The suspicion of TBD was confirmed with the measurement of short telomeres in the proband. In another family, we report a...
Source: Clinical Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Nikolaj Juul Nitschke Anne Marie Jelsig Charlotte Lautrup Malene Lundsgaard Marianne Tang Severinsen Jack Bernard Cowland Lisa Leth Maroun Mette Klarskov Andersen Kirsten Gr ønbæk Source Type: research
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC
In this report, we present two families, one with a pathogenic variant in ZCCHC8 and another with a novel variant in TERC. In the literature, only one family has previously been reported with a ZCCHC8 variant and TBD symptoms. This family had multiple occurrences of pulmonary fibrosis and one case of bone marrow failure. In this paper, we present a second family with the same ZCCHC8 variant (p.Pro186Leu) and symptoms of TBD including pulmonary fibrosis, hematological disease, and elevated liver enzymes. The suspicion of TBD was confirmed with the measurement of short telomeres in the proband. In another family, we report a...
Source: Clinical Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Nikolaj Juul Nitschke Anne Marie Jelsig Charlotte Lautrup Malene Lundsgaard Marianne Tang Severinsen Jack Bernard Cowland Lisa Leth Maroun Mette Klarskov Andersen Kirsten Gr ønbæk Source Type: research
Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2
Clin Genet. 2024 Apr 11. doi: 10.1111/cge.14532. Online ahead of print.ABSTRACTCTNND2 encodes δ-catenin, a component of an adherens junction complex, and plays an important role in neuronal structure and function. To date, only heterozygous loss-of-function CTNND2 variants have been associated with mild neurodevelopmental delay and behavioral anomalies, a condition, which we named Rauch-Azzarello syndrome. Here, we report three siblings of a consanguineous family of Syrian descent with a homozygous deletion encompassing the last 19 exons of CTNND2 predicted to disrupt the transcript. All presented with severe neurodevelop...
Source: Clinical Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Melissa Pauly Mandy Krumbiegel Sandra Trumpp Sonja Braig Thomas Rupprecht Cornelia Kraus Steffen Uebe Andr é Reis Georgia Vasileiou 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
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
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
