journal
https://read.qxmd.com/read/38757516/inherited-thrombocytopenia-associated-with-a-variant-in-the-fli1-binding-site-in-the-5-utr-of-ankrd26
#1
JOURNAL ARTICLE
Caitlin Dunstan-Harrison, Ian M Morison, Elizabeth C Ledgerwood
Variants in the 5' UTR of ANKRD26 are a common cause of inherited thrombocytopenia (ANKRD26-RT), and are associated with sustained ANKRD26 expression, which inhibits megakaryocyte maturation and proplatelet formation. ANKRD26 expression is controlled by the binding of a RUNX1/FLI1 complex to the 5' UTR. To date, all reported ANKRD26-RD associated variants have been within the RUNX1 binding site and a 22 base pair flanking region. Here, we report a novel variant in the 5' UTR of ANKRD26, c.-107C>T. This variant is in the FLI1 binding site, and is predicted to disrupt FLI1 binding due to loss of a hydrogen bond with FLI1...
May 17, 2024: Clinical Genetics
https://read.qxmd.com/read/38747280/genetic-profile-of-brazilian-patients-with-lama2-related-dystrophies
#2
JOURNAL ARTICLE
Clara Gontijo Camelo, Cristiane de Araujo Martins Moreno, Mariana da Cunha Artilheiro, Alulin Tácio Quadros Monteiro Fonseca, Juliana Gurgel Gianetti, André Vinícius Barbosa, Karina Carvalho Donis, Jonas Alex Morales Saute, André Pessoa, Hélio Van der Linden, Ana Rita Alcântara Gonçalves, Leslie Domenici Kulikowski, Fernando Kok, Edmar Zanoteli
LAMA2-related dystrophies (LAMA2-RD) constitute a rare neuromuscular disorder with a broad spectrum of phenotypic severity. Our understanding of the genotype-phenotype correlations in this condition remains incomplete, and reliable clinical data for clinical trial readiness is limited. In this retrospective study, we reviewed the genetic data and medical records of 114 LAMA2-RD patients enrolled at seven research centers in Brazil. We identified 58 different pathogenic variants, including 21 novel ones. Six variants were more prevalent and were present in 81...
May 15, 2024: Clinical Genetics
https://read.qxmd.com/read/38747114/identification-of-seven-variants-in-the-col4a1-gene-that-alter-rna-splicing-by-minigene-assay
#3
JOURNAL ARTICLE
Zhi Wang, Yan Sun, Yiyin Zhang, Yan Zhang, Ran Zhang, Changying Li, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xiaomeng Shi, Bingying Zhang, Ning Xu, Irene Bottillo, Leping Shao
Type IV collagen is an integral component of basement membranes. Mutations in COL4A1, one of the key genes encoding Type IV collagen, can result in a variety of diseases. It is clear that a significant proportion of mutations that affect splicing can cause disease directly or contribute to the susceptibility or severity of disease. Here, we analyzed exonic mutations and intronic mutations described in the COL4A1 gene using bioinformatics programs and identified candidate mutations that may alter the normal splicing pattern through a minigene system...
May 15, 2024: Clinical Genetics
https://read.qxmd.com/read/38733153/high-prevalence-of-copy-number-variations-in-the-japanese-participants-with-suspected-mody
#4
JOURNAL ARTICLE
Satoshi Tanaka, Hiroyuki Akagawa, Kenkou Azuma, Sayaka Higuchi, Atsushi Ujiie, Koshi Hashimoto, Naoko Iwasaki
Maturity-Onset Diabetes of the Young (MODY) is a diabetes mellitus subtype caused by a single gene. The detection rate of the responsible gene is 27% in the United Kingdom, indicating that the causative gene remains unknown in the majority of clinically diagnosed MODY cases. To improve the detection rate, we applied comprehensive genetic testing using whole exome sequencing (WES) followed by Multiplex Ligation-dependent Probe Amplification (MLPA) and functional analyses. Twenty-one unrelated Japanese participants with MODY were enrolled in the study...
May 11, 2024: Clinical Genetics
https://read.qxmd.com/read/38719617/a-fine-scale-genetic-map-of-the-japanese-population
#5
JOURNAL ARTICLE
Jun Takayama, Satoshi Makino, Takamitsu Funayama, Masao Ueki, Akira Narita, Keiko Murakami, Masatsugu Orui, Mami Ishikuro, Taku Obara, Shinichi Kuriyama, Masayuki Yamamoto, Gen Tamiya
Genetic maps are fundamental resources for linkage and association studies. A fine-scale genetic map can be constructed by inferring historical recombination events from the genome-wide structure of linkage disequilibrium-a non-random association of alleles among loci-by using population-scale sequencing data. We constructed a fine-scale genetic map and identified recombination hotspots from 10 092 551 bi-allelic high-quality autosomal markers segregating among 150 unrelated Japanese individuals whose genotypes were determined by high-coverage (30×) whole-genome sequencing, and the genotype quality was carefully controlled by using their parents' and offspring's genotypes...
May 8, 2024: Clinical Genetics
https://read.qxmd.com/read/38715525/fgf12-copy-number-variant-associated-with-epileptic-encephalopathy
#6
JOURNAL ARTICLE
Anna Abraham, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Wayne Jepsen, Chris Balak, Meredith Sanchez-Castillo, Marcus Naymik, Anna Bonfitto, Sampathkumar Rangasamy, Semyon Kruglyak, Matthew Huentelman, Vinodh Narayanan
FGF12 related epilepsy presents with variable phenotypes. We report another patient with a duplication involving the FGF12 gene who presented similar to other published cases having normal early development and responded to phenytoin.
May 8, 2024: Clinical Genetics
https://read.qxmd.com/read/38711401/outcomes-of-a-universal-germline-screening-program-in-a-community-urology-practice
#7
JOURNAL ARTICLE
Neil Mendhiratta, Herman Hauver, Whitley Hatton, Andrew Ostrusky, Devika S Sathe, Sandeep Gurram, Patricia Rice, Heather Chalfin
The role of germline genetic testing in urologic oncology has expanded in recent years. However, implementation of genetic testing in community practices remains a challenge, often due to limited access to qualified genetics trained providers. In this study, we report outcomes of a universal germline screening program in a community urology practice. Between November 2021 and September 2022, all patients referred for urology clinic visits at Frederick Health (Frederick, MD, USA) were provided an online genetics screening questionnaire prior to the visit...
May 7, 2024: Clinical Genetics
https://read.qxmd.com/read/38693682/abnormalities-in-pharyngeal-arch-derived-structures-in-satb2-associated-syndrome
#8
JOURNAL ARTICLE
Yuri A Zarate, Katherine Bosanko, Nada Derar, Jennifer L Fish
SATB2-associated syndrome (SAS, glass syndrome, OMIM#612313) is a neurodevelopmental autosomal dominant disorder with frequent craniofacial abnormalities including palatal and dental anomalies. To assess the role of Satb2 in craniofacial development, we analyzed mutant mice at different stages of development. Here, we show that Satb2 is broadly expressed in early embryonic mouse development including the mesenchyme of the second and third arches. Satb2-/- mutant mice exhibit microglossia, a shortened lower jaw, smaller trigeminal ganglia, and larger thyroids...
May 1, 2024: Clinical Genetics
https://read.qxmd.com/read/38685824/heritability-of-cancers-in-japanese-population-estimation-from-recent-cohort-data
#9
JOURNAL ARTICLE
Yoshiro Nagao, Kei Takeshita
Cancers are genetically categorized into common diseases showing a so-called multifactorial inheritance except for rare familial cancers. And as a measure to estimate the strength of genetic factors in the multifactorial diseases, heritability (h2 ) is generally used. However, there have been few reports on the estimation of heritability for cancers. We calculated the heritability from the incidence in subject population and the familial recurrence rate in first-degree relatives of the affected for cancers quoting the data from a large-scale prospective cohort study by Hidaka et al...
April 29, 2024: Clinical Genetics
https://read.qxmd.com/read/38685133/best-practice-guidelines-on-genetic-diagnostics-of-facioscapulohumeral-muscular-dystrophy-update-of-the-2012-guidelines
#10
REVIEW
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gina Ravenscroft, Franclo Henning, Frederique Magdinier, Nienke van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, Pedro J Tomaselli, Mark R Davis, Ichizo Nishino, Piraye Oflazer, Valerie Race, Venugopalan Y Vishnu, Victoria Williams, Cláudia F R Sobreira, Silvere M van der Maarel, Steve A Moore, Nicol C Voermans, Richard J L F Lemmers
The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical trials for FSHD, it is crucial to provide an update on our knowledge of the genetic features of the FSHD loci and renew the international consensus on the molecular testing recommendations. To this end, members of the FSHD European Trial Network summarized the evidence presented during the 2022 ENMC meeting on Genetic diagnosis, clinical outcome measures, and biomarkers...
April 29, 2024: Clinical Genetics
https://read.qxmd.com/read/38679877/syndromic-craniosynostosis-caused-by-a-novel-missense-variant-in-map4k4-expanding-the-genotype-phenotype-relationship-in-rasopathies
#11
JOURNAL ARTICLE
Jihoon G Yoon, Jung Woo Yu, Kyu Won Shim, Yong Oock Kim, Min Goo Lee
RASopathies represent a distinct class of neurodevelopmental syndromes caused by germline variants in the Ras/MAPK pathways. Recently, a novel disease-gene association was implicated in MAPK kinase kinase kinase 4 (MAP4K4), which regulates the upstream signals of the MAPK pathways. However, to our knowledge, only two studies have reported the genotype-phenotype relationships in the MAP4K4-related disorder. This study reports on a Korean boy harboring a novel de novo missense variant in MAP4K4 (NM_001242559:c...
April 28, 2024: Clinical Genetics
https://read.qxmd.com/read/38665048/usmani-riazuddin-syndrome-can-have-a-recognizable-phenotype-report-of-a-novel-ap1g1-variant
#12
JOURNAL ARTICLE
Maria Gnazzo, Giulia Pascolini, Giovanni Parlapiano, Francesco Petrizzelli, Daniele Perrino, Luigina Porco, Andrea Bartuli, Antonio Novelli, Anwar Baban
Usmani-Riazuddin syndrome (USRISR, MIM# 619548; USRISD, MIM#619467) is a very rare genetic condition. recently associated with deleterious variants in AP1G1 (MIM* 603533). It is characterized by multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, muscular tone disorders, seizures, limb defects, and unspecified facial gestalt. In this report, we describe this syndrome for the second time, in association to a novel AP1G1 variant identified in a toddler with multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, arrhythmias, hearing loss, skin changes, and limb defects...
April 25, 2024: Clinical Genetics
https://read.qxmd.com/read/38658784/pediatric-acute-promyelocytic-leukemia-and-fanconi-anemia-case-report-and-literature-review
#13
JOURNAL ARTICLE
Claire Freycon, Edith Sepulchre, Vincent-Philippe Lavallée, David Mitchell, Margaret L MacMillan, Catherine Vezina, Catherine Goudie
Acute promyelocytic leukemia (APL) represents 5%-10% of childhood acute myeloid leukemia (AML) and is the most curable subtype of AML. Fanconi anemia (FA) is one of the most common inherited bone marrow failure syndromes caused by biallelic pathogenic variants (PV) in specific DNA-repair genes. Biallelic PVs in FANCD1/BRCA2 (FA-D1) account for 3% of FA and are associated with early-onset leukemia and a high risk of solid tumors. We report a 4 year-old boy from non-consanguineous parents diagnosed with standard risk APL...
April 24, 2024: Clinical Genetics
https://read.qxmd.com/read/38606545/expanding-the-understanding-of-telomere-biology-disorder-with-reports-from-two-families-harboring-variants-in-zcchc8-and-terc
#14
JOURNAL ARTICLE
Nikolaj Juul Nitschke, Anne Marie Jelsig, Charlotte Lautrup, Malene Lundsgaard, Marianne Tang Severinsen, Jack Bernard Cowland, Lisa Leth Maroun, Mette Klarskov Andersen, Kirsten Grønbæk
Telomere biology disorder (TBD) can present within a wide spectrum of symptoms ranging from severe congenital malformations to isolated organ dysfunction in adulthood. Diagnosing TBD can be challenging given the substantial variation in symptoms and age of onset across generations. 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...
April 12, 2024: Clinical Genetics
https://read.qxmd.com/read/38604781/severe-manifestation-of-rauch-azzarello-syndrome-associated-with-biallelic-deletion-of-ctnnd2
#15
JOURNAL ARTICLE
Melissa Pauly, Mandy Krumbiegel, Sandra Trumpp, Sonja Braig, Thomas Rupprecht, Cornelia Kraus, Steffen Uebe, André Reis, Georgia Vasileiou
CTNND2 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...
April 11, 2024: Clinical Genetics
https://read.qxmd.com/read/38576397/genotypic-and-phenotypic-features-of-39-chinese-patients-with-glycogen-storage-diseases-type-i-vi-and-ix
#16
JOURNAL ARTICLE
Jindan Yu, Xiuxin Ling, Lingli Chen, Youhong Fang, Haihua Lin, Jingan Lou, Yanqi Ren, Jie Chen
Glycogen storage diseases (GSDs) are abnormally inherited glycogen metabolism mainly affecting the liver, muscles, and heart. Deficiency of proteins involved in glycogen metabolism caused by genetic mutations are responsible for different subtype of GSDs. However, there are still some challenges in diagnosing GSD. 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)...
April 5, 2024: Clinical Genetics
https://read.qxmd.com/read/38576124/beyond-the-phenotype-exploring-inherited-retinal-diseases-with-targeted-next-generation-sequencing-in-a-turkish-cohort
#17
JOURNAL ARTICLE
Busra Ozguc Caliskan, Kubra Uslu, Neslihan Sinim Kahraman, Kuddusi Erkilic, Ayse Oner, Munis Dundar
This research aims to compile recent clinical and genetic data from Turkish patients with inherited retinal disorders and evaluate the effectiveness of targeted Next-generation sequencing panels. The study included Turkish individuals with hereditary retinal diseases who visited the Medical Genetic Department of Erciyes University between 2019 and 2022. One proband per family was selected based on eligibility. We used Hereditary Disorder Solution (HDS) by Sophia Genetics and performed next-generation sequencing (NGS) with Illumina NextSeq-500...
April 4, 2024: Clinical Genetics
https://read.qxmd.com/read/38561851/simplified-detection-of-genetic-background-admixture-using-artificial-intelligence
#18
JOURNAL ARTICLE
Rini Pauly, Frank Alexander Feltus
Admixture refers to the mixing of genetic ancestry from different populations. Admixture is important for genomic medicine because it can affect how an individual responds to certain medications, how they metabolize drugs, and susceptibility to certain diseases. For example, some genetic variants associated with drug metabolism and response may be more common in certain populations, and individuals with admixed ancestry may have a different frequency of these variants than individuals from the ancestral populations...
April 1, 2024: Clinical Genetics
https://read.qxmd.com/read/38561231/possible-incomplete-penetrance-of-xq28-int22h-1-int22h-2-duplication
#19
JOURNAL ARTICLE
Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, Daniel Amsallem, Elise Boudry-Labis, Odile Boute, Sonia Bouquillon, Elise Brischoux-Boucher, Patrick Callier, Charles Coutton, Anne-Laude Avice Denizet, Klaus Dieterich, Paul Kuentz, James Lespinasse, Benoît Mazel, Gilles Morin, Florence Amram, Perrine Pennamen, Marlène Rio, Juliette Piard, Audrey Putoux, Mélanie Rama, Virginie Roze-Guillaumey, Caroline Schluth-Bolard, Marianne Till, Chloé Trouvé, Gaëlle Vieville, Caroline Rooryck, Damien Sanlaville, Nicolas Chatron
Xq28 int22h-1/int22h-2 duplication is the result of non-allelic homologous recombination between int22h-1/int22h-2 repeats separated by 0.5 Mb. It is responsible for a syndromic form of intellectual disability (ID), with recurrent infections and atopic diseases. Minor defects, nonspecific facial dysmorphic features, and overweight have also been described. Half of female carriers have been reported with ID, whereas all reported evaluated born males present mild to moderate ID, suggesting complete penetrance...
April 1, 2024: Clinical Genetics
https://read.qxmd.com/read/38558253/shifting-the-landscape-dominant-c-terminal-rare-missense-foxl2-variants-in-non-syndromic-primary-ovarian-failure-etiology
#20
JOURNAL ARTICLE
Pénélope Jordan, Camille Verebi, Bérénice Hervé, Sandrine Perol, Zeina Chakhtoura, Carine Courtillot, Anne Bachelot, Daphné Karila, Céline Renard, Virginie Grouthier, Stanislas Mulot de la Croix, Valérie Bernard, Corinne Fouveaut, Aude Brac de la Perrière, Sophie Jonard-Catteau, Philippe Touraine, Geneviève Plu-Bureau, Jean Michel Dupont, Sophie Christin-Maitre, Thierry Bienvenu
Pathogenic germline variants in the FOXL2 gene are associated with Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) in humans, an autosomal dominant condition. Two forms of BPES have emerged: (i) type I (BPES-I), characterized by ocular signs and primary ovarian failure (POI), and (ii) type II (BPES-II) with no systemic associations. This study aimed to compare the distribution of FOXL2 variants in idiopathic POI/DOR (diminished ovarian reserve) and both types of BPES, and to determine the involvement of FOXL2 in non-syndromic forms of POI/DOR...
April 1, 2024: Clinical Genetics
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