Clinical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report
Clin Genet. 2024 Feb 22. doi: 10.1111/cge.14501. Online ahead of print.ABSTRACTLow-density lipoprotein receptor-related protein 6 (LRP6) is a co-receptor of the Wnt signaling pathway, which plays an essential role in various biological activities during embryonic and postnatal development. LRP6 is exceptionally associated with rare diseases and always with autosomal dominant inheritance. Here we report a familial phenotype of high bone mass associated with skeletal anomalies and oligodontia but also persistent left superior vena cava, inguinal hernia, hepatic cysts, abnormal posterior fossa and genital malformations. Molec...
Source: Clinical Genetics - February 22, 2024 Category: Genetics & Stem Cells Authors: Ana ïk Previdi Christ èle Dubourg Val érie Cormier Daire M élanie Fradin Corinne Collet Source Type: research

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile
This study shows that individuals with 9q34.3 duplications including EHMT1 gene present with mild non-syndromic neurodevelopmental disorders and DNA methylation changes different from Kleefstra syndrome.PMID:38384171 | DOI:10.1111/cge.14498 (Source: Clinical Genetics)
Source: Clinical Genetics - February 22, 2024 Category: Genetics & Stem Cells Authors: Dmitrijs Rots Kathleen Rooney Raissa Relator Jennifer Kerkhof Haley McConkey Rolph Pfundt Carlo Marcelis Marjolein H Willemsen Johanna M van Hagen Petra Zwijnenburg Marielle Alders Katrin Õunap Tiia Reimand Olga Fjodorova Siren Berland Eva Benedicte Liah Source Type: research

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Clin Genet. 2024 Feb 20. doi: 10.1111/cge.14511. Online ahead of print.ABSTRACTA case of mosaic MTOR-associated hemimegalencephaly and hypomelanosis of Ito, died at 33 probably because of sudden unexpected death in epilepsy. Assessment of the variant allele fraction (VAF) in different tissues postmortem showed high variability not correlated with clinical features, representing the most detailed assessment of VAFs in different tissues to date.PMID:38379111 | DOI:10.1111/cge.14511 (Source: Clinical Genetics)
Source: Clinical Genetics - February 21, 2024 Category: Genetics & Stem Cells Authors: Camille Engel Martin Chevarin Juliette Piard Marine Abad Quentin Thomas Virginie Carmignac Yannis Duffourd Martine Lemesle-Martin Georges Tarris Christel Thauvin-Robinet Pierre Vabres Laurence Faivre Paul Kuentz Source Type: research

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications
Clin Genet. 2024 Feb 19. doi: 10.1111/cge.14495. Online ahead of print.ABSTRACTThe application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing informed genetic counseling. We herein present the phenotypic and genotypic insights from 142 Indian families with epilepsy with or without comorbidities. Based on the electroclinical findings, epilepsy syndrome diagnosis could be made in 44% (63/142) of the families adopting the latest proposal for the classification by the ILA...
Source: Clinical Genetics - February 20, 2024 Category: Genetics & Stem Cells Authors: Purvi Majethia Namanpreet Kaur Selinda Mascarenhas Lakshmi Priya Rao Shruti Pande Dhanya Lakshmi Narayanan Vivekananda Bhat Shalini S Nayak Karthik Vijay Nair Adarsh Pooradan Prasannakumar Ankur Chaurasia Bhagesh Hunakunti Nalesh Jadhav Sheeba Farooqui Ma Source Type: research

Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias
In conclusion, panel sequencing proved to be a highly effective way to decipher the genetic basis of SKDs in highly consanguineous families as well as sporadic and or familial cases from South Asia. Furthermore, our findings expand the allelic spectrum of skeletal dysplasias.PMID:38378010 | DOI:10.1111/cge.14509 (Source: Clinical Genetics)
Source: Clinical Genetics - February 20, 2024 Category: Genetics & Stem Cells Authors: Naseebullah Kakar Fazal Ur Rehman Ramandeep Kaur Gandham SriLakshmi Bhavani Manisha Goyal Hitesh Shah Karandeep Kaur Kushaljit Singh Sodhi Christian Kubisch Guntram Borck Inusha Panigrahi Katta Mohan Girisha Uwe Kornak Malte Spielmann Source Type: research

Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants
Clin Genet. 2024 Feb 15. doi: 10.1111/cge.14499. Online ahead of print.ABSTRACTFamilial exudative vitreoretinopathy (FEVR) is linked to disruption of the Norrin/Frizzled-4 signaling pathway, which plays an important role in retinal angiogenesis. Severe or complete knock-down of proteins in the pathway also causes syndromic forms of the condition. Both heterozygous and biallelic pathogenic variants in the FZD4 gene, encoding the pathway's key protein frizzled-4, are known to cause FEVR. However, it is not clear what effect different FZD4 variants have, and whether extraocular features should be expected in those with bialle...
Source: Clinical Genetics - February 16, 2024 Category: Genetics & Stem Cells Authors: Gry Hoem Arianna Pastore Eirik Bratland Terje Christoffersen Mariano Stornaiuolo Sofia Douzgou Source Type: research

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder
In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of individuals with available brain imaging include delays in myelination, wavy outline of the bodies of the lateral ventricles, and slight prominence of the...
Source: Clinical Genetics - February 15, 2024 Category: Genetics & Stem Cells Authors: Mohammed Almannai Dana Marafi Maha S Zaki Reza Maroofian Stephanie Efthymiou Nebal Waill Saadi Bilal Filimban Hormos Salimi Dafsari Fatima Rahman Shazia Maqbool Eissa Faqeih Fuad Al Mutairi Hind Alsharhan Omar Abdelaty Saadoun Bin-Hasan Ruizhi Duan Mahmou Source Type: research

Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
Clin Genet. 2024 Feb 14. doi: 10.1111/cge.14505. Online ahead of print.ABSTRACTBiallelic disease-causing variants in the ALPK3 gene were first identified in children presenting with a severe cardiomyopathy. More recently, it was shown that carriers of heterozygous ALPK3 null variants are at risk of developing hypertrophic cardiomyopathy (HCM) with an adult onset. Since the number of reported ALPK3 patients is small, the mutational spectrum and clinical data are not fully described. In this multi-centric study, we described the molecular and clinical spectrum of a large cohort of ALPK3 patients. Genetic testing using target...
Source: Clinical Genetics - February 15, 2024 Category: Genetics & Stem Cells Authors: Flavie Ader Guillaume Jedraszak Alexandre Janin Clarisse Billon Nathalie Roux Buisson Adrien Bloch Meriem Bensalah Anachiara De Sandre-Giovannoli Adeline Goudal Luisa Marsili C écile Cazeneuve Philippe Charron Gilles Millat Pascale Richard Cardiogen Fren Source Type: research