Parental request for familial carrier testing in early childhood: The genetic counseling perspective
This study suggests genetic counselors are resistant to carrier testing for familial disorders in young children and tend to align with current guidelines, yet they recognize nuance in various cases. Further investigation into this topic is warranted to support genetic counselors facing these requests as the ethics of pediatric carrier testing continues to be debated.PMID:37994684 | DOI:10.1111/cge.14458 (Source: Clinical Genetics)
Source: Clinical Genetics - November 23, 2023 Category: Genetics & Stem Cells Authors: Sabrina V Southwick Ian M MacFarlane Catherine Long Nishitha R Pillai Rebecca Tryon Source Type: research
Inheritance of c.628-6G & gt;A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants
Clin Genet. 2023 Nov 22. doi: 10.1111/cge.14454. Online ahead of print.ABSTRACTWe studied a patient with a severe phenotype carrying two GNB5 variants: c.514delT from the unaffected heterozygous mother and c.628-6G>A from the unaffected homozygous father. Functional genomics studies showed that parents express 50% (nonsense-mediated decay, NMD) of the RNA/protein while the patient does not produce enough protein for normal development.PMID:37994112 | DOI:10.1111/cge.14454 (Source: Clinical Genetics)
Source: Clinical Genetics - November 23, 2023 Category: Genetics & Stem Cells Authors: Jordi Pijuan Alba Vilanova-Adell D ídac Casas-Alba Jaume Campistol Janet Hoenicka Francesc Palau Source Type: research
Parental request for familial carrier testing in early childhood: The genetic counseling perspective
This study suggests genetic counselors are resistant to carrier testing for familial disorders in young children and tend to align with current guidelines, yet they recognize nuance in various cases. Further investigation into this topic is warranted to support genetic counselors facing these requests as the ethics of pediatric carrier testing continues to be debated.PMID:37994684 | DOI:10.1111/cge.14458 (Source: Clinical Genetics)
Source: Clinical Genetics - November 23, 2023 Category: Genetics & Stem Cells Authors: Sabrina V Southwick Ian M MacFarlane Catherine Long Nishitha R Pillai Rebecca Tryon Source Type: research
Inheritance of c.628-6G & gt;A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants
Clin Genet. 2023 Nov 22. doi: 10.1111/cge.14454. Online ahead of print.ABSTRACTWe studied a patient with a severe phenotype carrying two GNB5 variants: c.514delT from the unaffected heterozygous mother and c.628-6G>A from the unaffected homozygous father. Functional genomics studies showed that parents express 50% (nonsense-mediated decay, NMD) of the RNA/protein while the patient does not produce enough protein for normal development.PMID:37994112 | DOI:10.1111/cge.14454 (Source: Clinical Genetics)
Source: Clinical Genetics - November 23, 2023 Category: Genetics & Stem Cells Authors: Jordi Pijuan Alba Vilanova-Adell D ídac Casas-Alba Jaume Campistol Janet Hoenicka Francesc Palau Source Type: research
Parental request for familial carrier testing in early childhood: The genetic counseling perspective
This study suggests genetic counselors are resistant to carrier testing for familial disorders in young children and tend to align with current guidelines, yet they recognize nuance in various cases. Further investigation into this topic is warranted to support genetic counselors facing these requests as the ethics of pediatric carrier testing continues to be debated.PMID:37994684 | DOI:10.1111/cge.14458 (Source: Clinical Genetics)
Source: Clinical Genetics - November 23, 2023 Category: Genetics & Stem Cells Authors: Sabrina V Southwick Ian M MacFarlane Catherine Long Nishitha R Pillai Rebecca Tryon Source Type: research
CATSHL syndrome, a new family and phenotypic expansion
We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly - Tall stature - Scoliosis - Hearing Loss syndrome) syndrome was suspected, and molecular analysis revealed a hitherto unreported, monoallelic variant c.1861C>T (p.Arg621Cys) in FGFR3. This variant affects the same residue, but is different than, the variant p.Arg621His reported in the two families with dominant CATSHL described so far. Interestingly, peg-shaped incisors were observed in the proband, a feature never report...
Source: Clinical Genetics - November 22, 2023 Category: Genetics & Stem Cells Authors: Silvia Cannova Camilla Meossi Federico Grilli Donatella Milani Federica Alberti Claudia Cesaretti Paola Giovanna Marchisio Francesca Crosti Lidia Pezzani Source Type: research
CATSHL syndrome, a new family and phenotypic expansion
We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly - Tall stature - Scoliosis - Hearing Loss syndrome) syndrome was suspected, and molecular analysis revealed a hitherto unreported, monoallelic variant c.1861C>T (p.Arg621Cys) in FGFR3. This variant affects the same residue, but is different than, the variant p.Arg621His reported in the two families with dominant CATSHL described so far. Interestingly, peg-shaped incisors were observed in the proband, a feature never report...
Source: Clinical Genetics - November 22, 2023 Category: Genetics & Stem Cells Authors: Silvia Cannova Camilla Meossi Federico Grilli Donatella Milani Federica Alberti Claudia Cesaretti Paola Giovanna Marchisio Francesca Crosti Lidia Pezzani Source Type: research
Gene mutations as predictors of central lymph mode metastasis in cN0 PTC: A meta-analysis
Clin Genet. 2023 Nov 20. doi: 10.1111/cge.14456. Online ahead of print.ABSTRACTGene mutations could predict the tumor progression and prognosis, which are us to predict CLNM in patients with cN0 PTC, however, these results are not consistent. This meta-analysis tried to identify gene mutations which could predict CLNM in patients with cN0 PTC. A systematic search was performed for identifying relevant literature published prior to July 2023 in three search engines: PubMed, EMBASE and Web of Science. Studies that investigated the gene mutations for CLNM in patients with cN0 PTC were included in our meta-analysis. Sixteen st...
Source: Clinical Genetics - November 21, 2023 Category: Genetics & Stem Cells Authors: Jiaqi Ji Xinlong Shi Source Type: research
A novel RNF125 variant associated with Tenorio syndrome alters ubiquitin chain binding
Clin Genet. 2023 Nov 20. doi: 10.1111/cge.14457. Online ahead of print.ABSTRACTA key signalling pathway required for clearance of viruses from host cells relies on the receptor protein, retinoic acid-inducible gene I (RIG-I). The activity of RIG-I is tightly controlled, and once bound to viral dsRNA, addition of lysine 63-linked ubiquitin chains activates signalling. Meanwhile, the addition of lysine 48-linked ubiquitin chains to RIG-I is required to terminate signalling when the infection has been resolved. Really interesting new gene (RING) finger protein 125 (RNF125) is the E3 ligase responsible for addition of the ubiq...
Source: Clinical Genetics - November 21, 2023 Category: Genetics & Stem Cells Authors: Fareeda M Barzak Anita Lu Alexa R Geltzeiler Elizabeth C Ledgerwood Wendy K Chung Catherine L Day Source Type: research
CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans
We report two unrelated patients showing multiple morphological abnormalities of the sperm flagella (MMAF) and carrying distinct homozygous truncating variants in the PCD-associated gene CCDC65. We characterized one of the identified variants (c.1208del; p.Asn403Ilefs*9), which induces the near absence of CCDC65 protein in patient sperm. In Chlamydomonas, CCDC65 ortholog (DRC2, FAP250) is a component of the Nexin-Dynein Regulatory complex (N-DRC), which interconnects microtubule doublets and coordinates dynein arms activity. In sperm cells from the patient, we also show the loss of GAS8, another component of the N-DRC, sup...
Source: Clinical Genetics - November 17, 2023 Category: Genetics & Stem Cells Authors: Fadwa Jreijiri Emma Cavarocchi Amir Amiri-Yekta Caroline Cazin Seyedeh-Hanieh Hosseini Elma El Khouri Catherine Patrat Nicolas Thierry-Mieg Pierre F Ray Emmanuel Dulioust Marjorie Whitfield Aminata Tour é Source Type: research
CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans
We report two unrelated patients showing multiple morphological abnormalities of the sperm flagella (MMAF) and carrying distinct homozygous truncating variants in the PCD-associated gene CCDC65. We characterized one of the identified variants (c.1208del; p.Asn403Ilefs*9), which induces the near absence of CCDC65 protein in patient sperm. In Chlamydomonas, CCDC65 ortholog (DRC2, FAP250) is a component of the Nexin-Dynein Regulatory complex (N-DRC), which interconnects microtubule doublets and coordinates dynein arms activity. In sperm cells from the patient, we also show the loss of GAS8, another component of the N-DRC, sup...
Source: Clinical Genetics - November 17, 2023 Category: Genetics & Stem Cells Authors: Fadwa Jreijiri Emma Cavarocchi Amir Amiri-Yekta Caroline Cazin Seyedeh-Hanieh Hosseini Elma El Khouri Catherine Patrat Nicolas Thierry-Mieg Pierre F Ray Emmanuel Dulioust Marjorie Whitfield Aminata Tour é Source Type: research
CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans
We report two unrelated patients showing multiple morphological abnormalities of the sperm flagella (MMAF) and carrying distinct homozygous truncating variants in the PCD-associated gene CCDC65. We characterized one of the identified variants (c.1208del; p.Asn403Ilefs*9), which induces the near absence of CCDC65 protein in patient sperm. In Chlamydomonas, CCDC65 ortholog (DRC2, FAP250) is a component of the Nexin-Dynein Regulatory complex (N-DRC), which interconnects microtubule doublets and coordinates dynein arms activity. In sperm cells from the patient, we also show the loss of GAS8, another component of the N-DRC, sup...
Source: Clinical Genetics - November 17, 2023 Category: Genetics & Stem Cells Authors: Fadwa Jreijiri Emma Cavarocchi Amir Amiri-Yekta Caroline Cazin Seyedeh-Hanieh Hosseini Elma El Khouri Catherine Patrat Nicolas Thierry-Mieg Pierre F Ray Emmanuel Dulioust Marjorie Whitfield Aminata Tour é Source Type: research
CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans
We report two unrelated patients showing multiple morphological abnormalities of the sperm flagella (MMAF) and carrying distinct homozygous truncating variants in the PCD-associated gene CCDC65. We characterized one of the identified variants (c.1208del; p.Asn403Ilefs*9), which induces the near absence of CCDC65 protein in patient sperm. In Chlamydomonas, CCDC65 ortholog (DRC2, FAP250) is a component of the Nexin-Dynein Regulatory complex (N-DRC), which interconnects microtubule doublets and coordinates dynein arms activity. In sperm cells from the patient, we also show the loss of GAS8, another component of the N-DRC, sup...
Source: Clinical Genetics - November 17, 2023 Category: Genetics & Stem Cells Authors: Fadwa Jreijiri Emma Cavarocchi Amir Amiri-Yekta Caroline Cazin Seyedeh-Hanieh Hosseini Elma El Khouri Catherine Patrat Nicolas Thierry-Mieg Pierre F Ray Emmanuel Dulioust Marjorie Whitfield Aminata Tour é Source Type: research
Association between genetic variants of transmembrane transporters and susceptibility to anthracycline-induced cardiotoxicity: Current understanding and existing evidence
Clin Genet. 2023 Nov 14. doi: 10.1111/cge.14452. Online ahead of print.ABSTRACTAnthracyclines remain the cornerstone of numerous chemotherapeutic protocols, with beneficial effects against haematological malignancies and solid tumours. Unfortunately, the clinical usefulness of anthracyclines is compromised by the development of cardiotoxic side effects, leading to dose limitations or treatment discontinuation. There is no absolute linear correlation between the incidence of cardiotoxicity and the threshold dose, suggesting that genetic factors may modify the association between anthracyclines and cardiotoxicity risk. And t...
Source: Clinical Genetics - November 14, 2023 Category: Genetics & Stem Cells Authors: Ming-Ming Ni Ju-Fei Yang Jing Miao Jin Xu Source Type: research
Association between genetic variants of transmembrane transporters and susceptibility to anthracycline-induced cardiotoxicity: Current understanding and existing evidence
Clin Genet. 2023 Nov 14. doi: 10.1111/cge.14452. Online ahead of print.ABSTRACTAnthracyclines remain the cornerstone of numerous chemotherapeutic protocols, with beneficial effects against haematological malignancies and solid tumours. Unfortunately, the clinical usefulness of anthracyclines is compromised by the development of cardiotoxic side effects, leading to dose limitations or treatment discontinuation. There is no absolute linear correlation between the incidence of cardiotoxicity and the threshold dose, suggesting that genetic factors may modify the association between anthracyclines and cardiotoxicity risk. And t...
Source: Clinical Genetics - November 14, 2023 Category: Genetics & Stem Cells Authors: Ming-Ming Ni Ju-Fei Yang Jing Miao Jin Xu Source Type: research
