journal
https://read.qxmd.com/read/38515343/clinical-feature-galc-variant-spectrum-and-genotype-phenotype-correlation-in-korean-krabbe-disease-patients-multicenter-experience-over-13%C3%A2-years
#1
JOURNAL ARTICLE
Narae Hwang, Sang-Mi Kim, Young-Gon Kim, Changhee Ha, Jeehun Lee, Byung-Ok Choi, Won Jae Sung, Seung Hyun Kim, Young Mi Kim, Yong-Wha Lee, Jieun Kim, Jong-Won Kim, Ja-Hyun Jang, Jiwon Lee, Hyung-Doo Park
Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by deficiency of the galactocerebrosidase (GALC) due to variants in the GALC gene. Here, we provide the first and the largest comprehensive analysis of clinical and genetic characteristics, and genotype-phenotype correlations of KD in Korean in comparison with other ethnic groups. From June 2010 to June 2023, 10 patients were diagnosed with KD through sequencing of GALC. Clinical features, and results of GALC sequencing, biochemical test, neuroimaging, and neurophysiologic test were obtained from medical records...
March 22, 2024: Clinical Genetics
https://read.qxmd.com/read/38511226/de-novo-start-loss-variant-in-hira-in-patient-with-digeorge-like-syndrome
#2
JOURNAL ARTICLE
Dmitry Maslennikov, Ekaterina Tolmacheva, Jekaterina Shubina, Grigory Vasiliev, Margarita Rogacheva, Ksenia Svirepova, Dmitry Trofimov
A case of a newborn with tetralogy of Fallot, corpus callosum hypoplasia, and phenotypic features similar to DiGeorge syndrome. Chromosomal microarray analysis did not reveal any alterations. Whole exome sequencing and Sanger sequencing identified a de novo variant in the HIRA gene resulting in the loss of the start codon.
March 21, 2024: Clinical Genetics
https://read.qxmd.com/read/38506155/brca1-associated-protein-1-tumor-predisposition-syndrome-and-kury-isidor-syndrome-from-genotype-phenotype-correlation-to-clinical-management
#3
REVIEW
Elizabeth Casey West, Marco Chiappetta, Aubrey Anne Mattingly, Maria Teresa Congedo, Jessica Evangelista, Annalisa Campanella, Carolina Sassorossi, Sara Flamini, Teresa Rossi, Mariaelena Pistoni, Ludovico Abenavoli, Stefano Margaritora, Filippo Lococo, Luigi Boccuto
The BAP1 tumor suppressor gene encodes a deubiquitinase enzyme involved in several cellular activities, including DNA repair and apoptosis. Germline pathogenic variants in BAP1 have been associated with heritable conditions including BAP1 tumor predisposition syndrome 1 (BAP1-TPDS1) and a neurodevelopmental disorder known as Kury-Isidor syndrome (KURIS). Both these conditions are caused by monoallelic, dominant alterations of BAP1 but have never been reported in the same subject or family, suggesting a mutually exclusive genotype-phenotype correlation...
March 20, 2024: Clinical Genetics
https://read.qxmd.com/read/38488342/regulation-of-n-6-methyladenosine-modification-in-erythropoiesis-and-thalassemia
#4
REVIEW
Yanping Zheng, Siyang Lin, Meihuan Chen, Liangpu Xu, Hailong Huang
In eukaryotic RNA, N6 -methyladenosine (m6 A) is a prevalent form of methylation modification. The m6 A modification process is reversible and dynamic, written by m6 A methyltransferase complex, erased by m6 A demethylase, and recognized by m6 A binding proteins. Through mediating RNA stability, decay, alternative splicing, and translation processes, m6 A modification regulates gene expression at the post-transcriptional level. Erythropoiesis is the process of hematopoietic stem cells undergoing proliferation, a series of differentiation and maturation to form red blood cells (RBCs)...
March 15, 2024: Clinical Genetics
https://read.qxmd.com/read/38468460/identification-of-genetic-causes-in-children-with-unexplained-epilepsy-based-on-trio-whole-exome-sequencing
#5
JOURNAL ARTICLE
Li Chengyan, Xue Chupeng, Wang You, Chen Yinhui, Huang Binglong, Ao Dang, Liu Ling, Tian Chuan
Genotype and clinical phenotype analyses of 128 children were performed based on whole exome sequencing (WES), providing a reference for the provision of genetic counseling and the precise diagnosis and treatment of epilepsy. A total of 128 children with unexplained epilepsy were included in this study, and all their clinical data were analyzed. The children's treatments, epilepsy control, and neurodevelopmental levels were regularly followed up every 3 months. The genetic diagnostic yield of the 128 children with epilepsy is 50...
March 11, 2024: Clinical Genetics
https://read.qxmd.com/read/38468396/autozygome-guided-exome-first-study-in-a-consanguineous-cohort-with-early-onset-retinal-disease-uncovers-an-isolated-rims2-phenotype-and-a-retina-enriched-rims2-isoform
#6
JOURNAL ARTICLE
Marta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfride De Baere
Leber congenital amaurosis (LCA) and early-onset retinal degeneration (EORD) are inherited retinal diseases (IRD) characterized by early-onset vision impairment. Herein, we studied 15 Saudi families by whole exome sequencing (WES) and run-of-homozygosity (ROH) detection via AutoMap in 12/15 consanguineous families. This revealed (likely) pathogenic variants in 11/15 families (73%). A potential founder variant was found in RPGRIP1. Homozygous pathogenic variants were identified in known IRD genes (ATF6, CRB1, CABP4, RDH12, RIMS2, RPGRIP1, SPATA7)...
March 11, 2024: Clinical Genetics
https://read.qxmd.com/read/38454547/homozygous-novel-truncating-variant-of-clpp-associated-with-severe-perrault-syndrome
#7
JOURNAL ARTICLE
Rabia Faridi, Pamela Stratton, Noemi Salmeri, Robert J Morell, Asma Ali Khan, Muhammad A Usmani, William G Newman, Sheikh Riazuddin, Thomas B Friedman
A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay.
March 7, 2024: Clinical Genetics
https://read.qxmd.com/read/38440907/genebe-net-implementation-and-validation-of-an-automatic-acmg-variant-pathogenicity-criteria-assignment
#8
JOURNAL ARTICLE
Piotr Stawiński, Rafał Płoski
We present GeneBe, an online platform streamlining the automated application of American College of Medical Genetics and Genomics (ACMG), Association for Molecular Pathology (AMP), and the College of American Pathologists (CAP) criteria for assessment of pathogenicity of genetic variants. GeneBe utilizes automated algorithms that evaluate 17 criteria from 28, closely aligning with current guidelines and leveraging data from diverse sources, including ClinVar. The user-friendly web interface enables manual refinement of assignments for specific criteria based on site-collected data...
March 5, 2024: Clinical Genetics
https://read.qxmd.com/read/38438125/the-utility-of-exome-sequencing-in-diagnosing-pediatric-neurodevelopmental-disorders-in-a-highly-consanguineous-population
#9
JOURNAL ARTICLE
Tamam Khalaf, Mode Al Ojaimi, Dina Amin Saleh, Alena Sulaiman, Aman P Sohal, Arif Khan, Ayman W El-Hattab
Exome sequencing (ES) has been utilized in diagnosing children with neurodevelopmental manifestations, this study aimed to investigate the utility of ES in children within a highly consanguineous population that presented with neurodevelopmental complaints. A retrospective chart review was performed for 405 children with neurodevelopmental complaints who have had ES and were evaluated in multiple centers in the United Arab Emirates over a four-year period. Within the cohort of 405 children, consanguinity was reported in 35% (144/405)...
March 4, 2024: Clinical Genetics
https://read.qxmd.com/read/38424693/reduced-kinase-function-in-two-ultra-rare-tnni3k-variants-in-families-with-congenital-junctional-ectopic-tachycardia
#10
JOURNAL ARTICLE
Caroline Pham, Tamara T Koopmann, Jeffrey M Vinocur, Nico A Blom, Vivian Nogueira Silbiger, Kirti Mittal, Marianne Bootsma, Kaylin C A Palm, Sally-Ann B Clur, Daniela Q C M Barge-Schaapveld, Robert M Hamilton, Elisabeth M Lodder
Genetic missense variants in TNNI3K, encoding troponin-I interacting kinase, have been associated with dilated cardiomyopathy (DCM) and observed in families with supraventricular tachycardias (SVT). Previously, a family harboring the TNNI3K-c.1615A > G (p.Thr539Ala) variant presented with congenital junctional ectopic tachycardia (CJET), an arrhythmia that arises from the atrioventricular (AV) node and His bundle. However, this was a relatively small four-generational family with limited genetic testing (N = 3)...
February 29, 2024: Clinical Genetics
https://read.qxmd.com/read/38424388/cerebral-dural-arteriovenous-fistulas-in-patients-with-pten-related-hamartoma-tumor-syndrome
#11
JOURNAL ARTICLE
Anna Gerasimenko, Cyril Mignot, Olivier Naggara, Florence Coulet, Samar Ekram, Solveig Heide, Clarisse Sorato, Maxime Mazowiecki, Laurence Perrin, Chrystelle Colas, Veronica Cusin, Frédéric Caux, Antoine Dardenne, Salima El Chehadeh, Alain Verloes, Hélène Maurey, Alexandra Afenjar, Florence Petit, Stéphane Barete, Odile Boespflug-Tanguy, Emmanuelle Bourrat, Yline Capri, Viorica Ciorna, Wallid Deb, Diane Doummar, Alexandre Perrier, Alexis Guédon, Emmanuel Houdart, Bertrand Isidor, Marie-Line Jacquemont, Camille Buffet, Sandra Mercier, Sandrine Passemard, Audrey Riquet, Lyse Ruaud, Elise Schaefer, Delphine Heron, Annouk Bisdorff, Patrick R Benusiglio
Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available. Two patients had DAVF (2/58, 3.4%), both presenting at advanced stages: a 34-year-old man with a left lateral sinus DAVF at immediate risk of hemorrhage, and a 21-year-old woman with acute intracranial hypertension due to a torcular DAVF...
February 29, 2024: Clinical Genetics
https://read.qxmd.com/read/38420660/asxl3-related-disorder-molecular-phenotyping-and-comprehensive-review-providing-insights-into-disease-mechanism
#12
REVIEW
Emily Woods, Nicola Holmes, Shadi Albaba, Iwan R Evans, Meena Balasubramanian
ASXL3-related disorder, sometimes referred to as Bainbridge-Ropers syndrome, was first identified as a distinct neurodevelopmental disorder by Bainbridge et al. in 2013. Since then, there have been a number of case series and single case reports published worldwide. A comprehensive review of the literature was carried out. Abstracts were screened, relevant literature was analysed, and descriptions of common phenotypic features were quantified. ASXL3 variants were collated and categorised. Common phenotypic features comprised global developmental delay or intellectual disability (97%), feeding problems (76%), hypotonia (88%) and characteristic facial features (93%)...
February 29, 2024: Clinical Genetics
https://read.qxmd.com/read/38417950/a-founder-variant-expands-the-phenotype-of-wnt7b-related-pdac-syndrome
#13
JOURNAL ARTICLE
Lama AlAbdi, Zuhair Rahbeeni, Sateesh Maddirevula, Rana Helaby, Firdous Abdulwahab, Arif O Khan, Lisa G Riley, Amal Alhashem, Nicolas Chassaing, Robyn V Jamieson, Fowzan S Alkuraya
Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia, and Cardiac defects (PDAC) syndrome is a genetically heterogeneous multiple congenital malformation syndrome. Although pathogenic variants in RARB and STRA6 are established causes of PDAC, many PDAC cases remain unsolved at the molecular level. Recently, we proposed biallelic WNT7B variants as a novel etiology based on several families with typical features of PDAC syndrome albeit with variable expressivity. Here, we report three patients from two families that share a novel founder variant in WNT7B (c...
February 28, 2024: Clinical Genetics
https://read.qxmd.com/read/38414139/evidence-for-common-mechanisms-of-pathology-between-shank3-and-other-genes-of-phelan-mcdermid-syndrome
#14
REVIEW
Andrew R Mitz, Luigi Boccuto, Audrey Thurm
Chromosome 22q13.3 deletion (Phelan-McDermid) syndrome (PMS, OMIM 606232) is a rare genetic condition that impacts neurodevelopment. PMS most commonly results from heterozygous contiguous gene deletions that include the SHANK3 gene or likely pathogenic variants of SHANK3 (PMS-SHANK3 related). Rarely, chromosomal rearrangements that spare SHANK3 share the same general phenotype (PMS-SHANK3 unrelated). Very recent human and model system studies of genes that likely contribute to the PMS phenotype point to overlap in gene functions associated with neurodevelopment, synaptic formation, stress/inflammation and regulation of gene expression...
February 27, 2024: Clinical Genetics
https://read.qxmd.com/read/38409652/genome-wide-association-study-of-cardiometabolic-multimorbidity-in-the-uk-biobank
#15
JOURNAL ARTICLE
Chenxuan Zhao, Tianqi Ma, Xunjie Cheng, Guogang Zhang, Yongping Bai
Considering the high prevalence and poor prognosis of cardiometabolic multimorbidity (CMM), identifying causal factors and actively implementing preventive measures is crucial. However, Mendelian randomization (MR), a key method for identifying the causal factors of CMM, requires knowledge of the effects of SNPs on CMM, which remain unknown. We first analyzed the genetic overlap of single cardiometabolic diseases (CMDs) using the latest genome-wide association study (GWAS) for evidential support and comparison...
February 26, 2024: Clinical Genetics
https://read.qxmd.com/read/38403837/clinical-and-genetic-characteristics-in-a-chinese-cohort-of-complex-spastic-paraplegia-type-4
#16
JOURNAL ARTICLE
Li Yao, Yuwen Cao, Chao Zhang, Xiaojun Huang, Wotu Tian, Li Cao
Spastic paraplegia type 4 (SPG4), caused by SPAST mutations, is the most predominant subtype of hereditary spastic paraplegia. Most documented SPG4 patients present as pure form, with the complex form rarely reported. We described the clinical and genetic features of 20 patients with complex phenotypes of SPG4 and further explored the genotype-phenotype correlations. We collected detailed clinical data of all SPG4 patients and assessed their phenotypes. SPAST gene mutations were identified by Multiplex ligation-dependent probe amplification in combination with whole exome sequencing...
February 25, 2024: Clinical Genetics
https://read.qxmd.com/read/38385987/novel-variant-in-lrp6-associated-with-unusual-and-severe-clinical-presentation-case-report
#17
JOURNAL ARTICLE
Anaïk Previdi, Christèle Dubourg, Valérie Cormier Daire, Mélanie Fradin, Corinne Collet
Low-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...
February 22, 2024: Clinical Genetics
https://read.qxmd.com/read/38384171/refining-the-9q34-3-microduplication-syndrome-reveals-mild-neurodevelopmental-features-associated-with-a-distinct-global-dna-methylation-profile
#18
JOURNAL ARTICLE
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 Liahjell, Ognjen Bojovic, Marjolein Kriek, Claudia Ruivenkamp, Maria Teresa Bonati, Han G Brunner, Lisenka E L M Vissers, Bekim Sadikovic, Tjitske Kleefstra
Precise regulation of gene expression is important for correct neurodevelopment. 9q34.3 deletions affecting the EHMT1 gene result in a syndromic neurodevelopmental disorder named Kleefstra syndrome. In contrast, duplications of the 9q34.3 locus encompassing EHMT1 have been suggested to cause developmental disorders, but only limited information has been available. We have identified 15 individuals from 10 unrelated families, with 9q34.3 duplications <1.5 Mb in size, encompassing EHMT1 entirely. Clinical features included mild developmental delay, mild intellectual disability or learning problems, autism spectrum disorder, and behavior problems...
February 21, 2024: Clinical Genetics
https://read.qxmd.com/read/38379111/allelic-heterogeneity-in-a-patient-with-postzygotic-mtor-related-hypomelanosis-of-ito-with-neurodevelopmental-abnormalities
#19
JOURNAL ARTICLE
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
A 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.
February 20, 2024: Clinical Genetics
https://read.qxmd.com/read/38378010/multi-gene-panel-sequencing-in-highly-consanguineous-families-and-patients-with-congenital-forms-of-skeletal-dysplasias
#20
JOURNAL ARTICLE
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
Skeletal dysplasias (SKDs) are a heterogeneous group of more than 750 genetic disorders characterized by abnormal development, growth, and maintenance of bones or cartilage in the human skeleton. SKDs are often caused by variants in early patterning genes and in many cases part of multiple malformation syndromes and occur in combination with non-skeletal phenotypes. The aim of this study was to investigate the underlying genetic cause of congenital SKDs in highly consanguineous Pakistani families, as well as in sporadic and familial SKD cases from India using multigene panel sequencing analysis...
February 20, 2024: Clinical Genetics
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