Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder
Clin Genet. 2023 Dec 13. doi: 10.1111/cge.14469. Online ahead of print.ABSTRACTIntellectual disability (ID) is a large group of neurodevelopmental disorders characterized by a congenital limitation in intellectual functioning (reasoning, learning, and problem solving), adaptive behavior (conceptual, social, and practical skills), originated at birth and manifested before the age of 18. By whole exome sequencing of five consanguineous Pakistani families presenting hallmark features of ID, global developmental delay, aggressive and self-injurious behaviors, microcephaly, febrile seizures and facial dysmorphic features, we id...
Source: Clinical Genetics - December 13, 2023 Category: Genetics & Stem Cells Authors: Gul Nazmina Amjad Khan Jiuhong Jiang Zhichao Miao Shahid Niaz Khan Muhammad Ismail Khan Abdul Haleem Shah Aysha Haleem Shah Muhammad Khisroon Tobias B Haack Source Type: research
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia
Clin Genet. 2023 Dec 10. doi: 10.1111/cge.14465. Online ahead of print.ABSTRACTThis graphic abstract combines pedigree, dysmorphology features, radiographs, and the PRKG2 protein domain, specifically the CNB-A regulatory domain, which harbors a mutation resulting in premature protein termination.PMID:38072398 | DOI:10.1111/cge.14465 (Source: Clinical Genetics)
Source: Clinical Genetics - December 10, 2023 Category: Genetics & Stem Cells Authors: Payal Kamdar Thenral S Geetha Thomas Palocaren Madhavi Kandagaddala Praveen Kumar Chinniah Sakthivel Murugan Ramprasad Vedam Sumita Danda Source Type: research
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia
Clin Genet. 2023 Dec 10. doi: 10.1111/cge.14465. Online ahead of print.ABSTRACTThis graphic abstract combines pedigree, dysmorphology features, radiographs, and the PRKG2 protein domain, specifically the CNB-A regulatory domain, which harbors a mutation resulting in premature protein termination.PMID:38072398 | DOI:10.1111/cge.14465 (Source: Clinical Genetics)
Source: Clinical Genetics - December 10, 2023 Category: Genetics & Stem Cells Authors: Payal Kamdar Thenral S Geetha Thomas Palocaren Madhavi Kandagaddala Praveen Kumar Chinniah Sakthivel Murugan Ramprasad Vedam Sumita Danda Source Type: research
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
In this study, we phenotypically and molecularly characterize the largest cohort of individuals (n = 26) with 23 novel CAMTA1 variants (frameshift-7, nonsense-6, splicing-1, initiation codon-1, missense-5, and intragenic deletions-3) and compare the findings with all previously reported cases (total = 53). We show that the most notable phenotypic findings are developmental delay/intellectual disability, unsteady or uncoordinated gait, hypotonia, behavioral problems, and eye abnormalities. In addition, there is a high incidence of dysarthria, dysgraphia, microcephaly, gastrointestinal abnormalities, sleep difficulties, and ...
Source: Clinical Genetics - December 4, 2023 Category: Genetics & Stem Cells Authors: Hussam Al-Kateb P Y Billie Au Siren Berland Benjamin Cogne Florence Demurger Joel Fluss Bertrand Isidor L Matthew Frank Konstantinos Varvagiannis David A Koolen Marie McDonald Sarah Montgomery St éphanie Moortgat Marie Deprez Deniz Karadurmus Julie Pauls Source Type: research
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
In this study, we phenotypically and molecularly characterize the largest cohort of individuals (n = 26) with 23 novel CAMTA1 variants (frameshift-7, nonsense-6, splicing-1, initiation codon-1, missense-5, and intragenic deletions-3) and compare the findings with all previously reported cases (total = 53). We show that the most notable phenotypic findings are developmental delay/intellectual disability, unsteady or uncoordinated gait, hypotonia, behavioral problems, and eye abnormalities. In addition, there is a high incidence of dysarthria, dysgraphia, microcephaly, gastrointestinal abnormalities, sleep difficulties, and ...
Source: Clinical Genetics - December 4, 2023 Category: Genetics & Stem Cells Authors: Hussam Al-Kateb P Y Billie Au Siren Berland Benjamin Cogne Florence Demurger Joel Fluss Bertrand Isidor L Matthew Frank Konstantinos Varvagiannis David A Koolen Marie McDonald Sarah Montgomery St éphanie Moortgat Marie Deprez Deniz Karadurmus Julie Pauls Source Type: research
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
In this study, we phenotypically and molecularly characterize the largest cohort of individuals (n = 26) with 23 novel CAMTA1 variants (frameshift-7, nonsense-6, splicing-1, initiation codon-1, missense-5, and intragenic deletions-3) and compare the findings with all previously reported cases (total = 53). We show that the most notable phenotypic findings are developmental delay/intellectual disability, unsteady or uncoordinated gait, hypotonia, behavioral problems, and eye abnormalities. In addition, there is a high incidence of dysarthria, dysgraphia, microcephaly, gastrointestinal abnormalities, sleep difficulties, and ...
Source: Clinical Genetics - December 4, 2023 Category: Genetics & Stem Cells Authors: Hussam Al-Kateb P Y Billie Au Siren Berland Benjamin Cogne Florence Demurger Joel Fluss Bertrand Isidor L Matthew Frank Konstantinos Varvagiannis David A Koolen Marie McDonald Sarah Montgomery St éphanie Moortgat Marie Deprez Deniz Karadurmus Julie Pauls Source Type: research
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
In this study, we phenotypically and molecularly characterize the largest cohort of individuals (n = 26) with 23 novel CAMTA1 variants (frameshift-7, nonsense-6, splicing-1, initiation codon-1, missense-5, and intragenic deletions-3) and compare the findings with all previously reported cases (total = 53). We show that the most notable phenotypic findings are developmental delay/intellectual disability, unsteady or uncoordinated gait, hypotonia, behavioral problems, and eye abnormalities. In addition, there is a high incidence of dysarthria, dysgraphia, microcephaly, gastrointestinal abnormalities, sleep difficulties, and ...
Source: Clinical Genetics - December 4, 2023 Category: Genetics & Stem Cells Authors: Hussam Al-Kateb P Y Billie Au Siren Berland Benjamin Cogne Florence Demurger Joel Fluss Bertrand Isidor L Matthew Frank Konstantinos Varvagiannis David A Koolen Marie McDonald Sarah Montgomery St éphanie Moortgat Marie Deprez Deniz Karadurmus Julie Pauls Source Type: research
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
In this study, we phenotypically and molecularly characterize the largest cohort of individuals (n = 26) with 23 novel CAMTA1 variants (frameshift-7, nonsense-6, splicing-1, initiation codon-1, missense-5, and intragenic deletions-3) and compare the findings with all previously reported cases (total = 53). We show that the most notable phenotypic findings are developmental delay/intellectual disability, unsteady or uncoordinated gait, hypotonia, behavioral problems, and eye abnormalities. In addition, there is a high incidence of dysarthria, dysgraphia, microcephaly, gastrointestinal abnormalities, sleep difficulties, and ...
Source: Clinical Genetics - December 4, 2023 Category: Genetics & Stem Cells Authors: Hussam Al-Kateb P Y Billie Au Siren Berland Benjamin Cogne Florence Demurger Joel Fluss Bertrand Isidor L Matthew Frank Konstantinos Varvagiannis David A Koolen Marie McDonald Sarah Montgomery St éphanie Moortgat Marie Deprez Deniz Karadurmus Julie Pauls Source Type: research
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
In this study, we phenotypically and molecularly characterize the largest cohort of individuals (n = 26) with 23 novel CAMTA1 variants (frameshift-7, nonsense-6, splicing-1, initiation codon-1, missense-5, and intragenic deletions-3) and compare the findings with all previously reported cases (total = 53). We show that the most notable phenotypic findings are developmental delay/intellectual disability, unsteady or uncoordinated gait, hypotonia, behavioral problems, and eye abnormalities. In addition, there is a high incidence of dysarthria, dysgraphia, microcephaly, gastrointestinal abnormalities, sleep difficulties, and ...
Source: Clinical Genetics - December 4, 2023 Category: Genetics & Stem Cells Authors: Hussam Al-Kateb P Y Billie Au Siren Berland Benjamin Cogne Florence Demurger Joel Fluss Bertrand Isidor L Matthew Frank Konstantinos Varvagiannis David A Koolen Marie McDonald Sarah Montgomery St éphanie Moortgat Marie Deprez Deniz Karadurmus Julie Pauls Source Type: research
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families
This study further highlighted the importance of performing family studies for clarifying apparently sporadic FSHD cases, with significant implications for genetic counseling, diagnosis, clinical management, and procreative choices for patients and families.PMID:38041579 | DOI:10.1111/cge.14466 (Source: Clinical Genetics)
Source: Clinical Genetics - December 2, 2023 Category: Genetics & Stem Cells Authors: Claudia Strafella Luca Colantoni Domenica Megalizzi Giulia Trastulli Emma Proietti Piorgo Guido Primiano Cristina Sancricca Giulia Ricci Gabriele Siciliano Carlo Caltagirone Massimiliano Filosto Giorgio Tasca Enzo Ricci Raffaella Cascella Emiliano Giardin Source Type: research
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families
This study further highlighted the importance of performing family studies for clarifying apparently sporadic FSHD cases, with significant implications for genetic counseling, diagnosis, clinical management, and procreative choices for patients and families.PMID:38041579 | DOI:10.1111/cge.14466 (Source: Clinical Genetics)
Source: Clinical Genetics - December 2, 2023 Category: Genetics & Stem Cells Authors: Claudia Strafella Luca Colantoni Domenica Megalizzi Giulia Trastulli Emma Proietti Piorgo Guido Primiano Cristina Sancricca Giulia Ricci Gabriele Siciliano Carlo Caltagirone Massimiliano Filosto Giorgio Tasca Enzo Ricci Raffaella Cascella Emiliano Giardin Source Type: research
A de novo variant in RERE causes autistic behavior by disrupting related genes and signaling pathway
In conclusion, we report a de novo variant in RERE associated with autistic behavior. The finding that ASD is associated with RERE variants underscore the role of genetic factors in ASD and provides insights regarding the mechanisms underlying RERE variants in disease onset.PMID:38018232 | DOI:10.1111/cge.14461 (Source: Clinical Genetics)
Source: Clinical Genetics - November 29, 2023 Category: Genetics & Stem Cells Authors: Qian Li Wenbo Li Kaiyue Hu Yaqian Wang Yang Li Jiawei Xu Source Type: research
A novel homozygous variant in PMVK is associated with enhanced IL1 β secretion and a hyper-IgD syndrome-like phenotype
In this study, we describe a child with recurrent arthritis and a HIDS-like phenotype harboring a novel homozygous variant c.398 C>T (p.Ala133Val) in PMVK. Mononuclear cells isolated from the patient showed significantly elevated production of interleukin 1β, a key cytokine that shapes the inflammatory response in HIDS. Protein modeling studies suggested potential defects in PMVK enzyme activity. These results posit a further expanding of the genotypic spectrum of autoinflammatory disease to include biallelic PMVK variants.PMID:38018277 | DOI:10.1111/cge.14451 (Source: Clinical Genetics)
Source: Clinical Genetics - November 29, 2023 Category: Genetics & Stem Cells Authors: Amit Jairaman Vaishnavi Ashok Badiger Spoorthy Raj Karthik Vijay Nair Suma Balan Dhanya Lakshmi Narayanan Source Type: research
Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns
In conclusion, the spectrum of FH-causing mutations in the newborns of Qingdao, China was described for the first time. These data can serve as a considerable dataset for next-generation sequencing analysis of the Chinese population with FH and potentially helping reform regional policies for early detection and prevention of FH.PMID:38018368 | DOI:10.1111/cge.14453 (Source: Clinical Genetics)
Source: Clinical Genetics - November 29, 2023 Category: Genetics & Stem Cells Authors: Yingchao Zhou Gang Luo Ai Zhang Shuai Gao Yaqi Tang Zhanhui Du Silin Pan Source Type: research
A de novo variant in RERE causes autistic behavior by disrupting related genes and signaling pathway
In conclusion, we report a de novo variant in RERE associated with autistic behavior. The finding that ASD is associated with RERE variants underscore the role of genetic factors in ASD and provides insights regarding the mechanisms underlying RERE variants in disease onset.PMID:38018232 | DOI:10.1111/cge.14461 (Source: Clinical Genetics)
Source: Clinical Genetics - November 29, 2023 Category: Genetics & Stem Cells Authors: Qian Li Wenbo Li Kaiyue Hu Yaqian Wang Yang Li Jiawei Xu Source Type: research
