Article
Genetics & Heredity
Qianwen Zhang, Yu Ding, Biyun Feng, Yijun Tang, Yao Chen, Yirou Wang, Guoying Chang, Shijian Liu, Jian Wang, Qian Li, Lijun Fu, Xiumin Wang
Summary: This study is the largest cohort of Chinese ALMS patients to date. Through detailed genetic and phenotypic data, specific and common variants were successfully identified in the cohort. The study also found olfactory identification impairments and distinctive facial patterns in ALMS patients.
FRONTIERS IN GENETICS
(2022)
Article
Dermatology
Qisi Sun, Nareh M. Burgren, Shayan Cheraghlou, Amy S. Paller, Margarita Larralde, Lionel Bercovitch, Jonathan Levinsohn, Ivy Ren, Rong Hua Hu, Jing Zhou, Theodore Zaki, Ryan Fan, Charlie Tian, Corey Saraceni, Carol J. Nelson-Williams, Erin Loring, Brittany G. Craiglow, Leonard M. Milstone, Richard P. Lifton, Lynn M. Boyden, Keith A. Choate
Summary: This study recruited an international group of individuals with ichthyosis to expand the genotypic and phenotypic spectrum of the disease and establish associations between clinical manifestations and genotypes.
Article
Biochemistry & Molecular Biology
Thomas Rolland, Freddy Cliquet, Richard J. L. Anney, Clara Moreau, Nicolas Traut, Alexandre Mathieu, Guillaume Huguet, Jinjie Duan, Varun Warrier, Swan Portalier, Louise Dry, Claire S. Leblond, Elise Douard, Frederique Amsellem, Simon Malesys, Anna Maruani, Roberto Toro, Anders D. Borglum, Jakob Grove, Simon Baron-Cohen, Alan Packer, Wendy K. Chung, Sebastien Jacquemont, Richard Delorme, Thomas Bourgeron
Summary: The prevalence of autism-associated genetic variants in individuals without a diagnosis of autism is explored. These variants are associated with a decrease in fluid intelligence, qualification level, income, and an increase in metrics related to material deprivation. Autism-associated genes have a larger impact on these phenotypic features than other genes with loss-of-function variants.
Article
Medicine, General & Internal
Silvia Bettini, Giancarlo Bombonato, Francesca Dassie, Francesca Favaretto, Luca Piffer, Paola Bizzotto, Luca Busetto, Liliana Chemello, Marco Senzolo, Carlo Merkel, Paolo Angeli, Roberto Vettor, Gabriella Milan, Pietro Maffei
Summary: Patients with Alström syndrome show significant abnormalities in liver fibrosis and steatosis, which may be related to metabolic and genetic alterations. Shear wave elastography and ultrasound sonographic are promising tools for evaluating disease progression. The ALMS1 gene may be involved in liver fibrogenesis.
Article
Genetics & Heredity
Varun Warrier, Xinhe Zhang, Patrick Reed, Alexandra Havdahl, Tyler M. Moore, Freddy Cliquet, Claire S. Leblond, Thomas Rolland, Anders Rosengren, David H. Rowitch, Matthew E. Hurles, Daniel H. Geschwind, Anders D. Borglum, Elise B. Robinson, Jakob Grove, Hilary C. Martin, Thomas Bourgeron, Simon Baron-Cohen
Summary: Comprehensive factor analysis of core diagnostic features provides insights into the complex genetic architecture underlying phenotypic heterogeneity in autism. The study found that common genetic variants were associated with the core factors of autism, but not de novo variants. Higher autism polygenic scores were associated with a lower likelihood of co-occurring developmental disabilities, and autistic females showed a stronger over-inheritance of autism PGS compared to males.
Article
Clinical Neurology
Chujun Wu, Mengwen Wang, Xingao Wang, Wei Li, Shaowu Li, Bin Chen, Songtao Niu, Hongfei Tai, Hua Pan, Zaiqiang Zhang
Summary: This study investigated a cohort of 309 adult patients with suspected genetic leukoencephalopathies (gLEs) and characterized the genetic and phenotypic spectra of gLEs in this population. The most frequently mutated genes were identified.
Review
Genetics & Heredity
Savas Dedeoglu, Elif Dede, Funda Oztunc, Asuman Gedikbasi, Gozde Yesil, Reyhan Dedeoglu
Summary: This study aimed to evaluate severe cardiomyopathy in infants with Alstrom syndrome and investigate specific mutations associated with the disease. The results showed intra-familial variability in the severity of cardiomyopathy for patients with the same mutation. Abnormal cardiac function was observed in all patients, indicating a potential link between the mutation and severe cardiomyopathy.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Review
Health Care Sciences & Services
Fenqi Gao, Xiu Zhao, Bingyan Cao, Xin Fan, Xiaoqiao Li, Lele Li, Shengbin Sui, Zhe Su, Chunxiu Gong
Summary: This study retrospectively analyzed the clinical and genetic data of 13 Chinese KBGS patients and discovered multiple variations in the ANKRD11 gene. These patients exhibited various phenotypic characteristics, including craniofacial anomalies, intellectual disability, and growth and developmental abnormalities. Similar results were also found in the analysis of previously reported patient data.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Clinical Neurology
Melis Kose, Engin Kose, Aycan Unalp, Unsal Yilmaz, Selvinaz Edizer, Hande Gazeteci Tekin, Pakize Karaoglu, Taha Resid Ozdemir, Esra Er, Huseyin Onay, Eser Sozmen Yildirim
Summary: This study discusses the clinical and molecular characteristics of 14 patients diagnosed with different types of NCL, including NCL7, NCL1, NCL2, and others. The results revealed 11 pathogenic variants, 5 of which are novel.
NEUROLOGICAL SCIENCES
(2021)
Article
Genetics & Heredity
Esra Usluer, Gozde Yesil Sayin, Nilay Gunes, Busra Kasap, Beyhan Tuysuz
Summary: Kabuki syndrome (KS) is a rare disorder characterized by distinct facial features, persistent fingertip pads, and intellectual disability. This study investigated the genetic and clinical characteristics of KS patients and identified new variants in genes associated with KS. All patients had intellectual disability, with 43.2% being severe or moderate.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Jack M. Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Brie Wamsley, Lambertus Klei, Lily Wang, Stephanie P. Hao, Christine R. Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Catalina Betancur, Alfredo Brusco, Brian H. Y. Chung, Edwin H. Cook, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz-Picciotto, Patricia Maciel, Dara S. Manoach, Maria Rita Passos-Bueno, Antonio M. Persico, Alessandra Renieri, James S. Sutcliffe, Flora Tassone, Elisabetta Trabetti, Gabriele Campos, Simona Cardaropoli, Diana Carli, Marcus C. Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina Girardi, Emily Hansen-Kiss, So Lun Lee, Carla Lintas, Yunin Ludena, Rachel Nguyen, Lisa Pavinato, Margaret Pericak-Vance, Isaac N. Pessah, Rebecca J. Schmidt, Moyra Smith, Claudia I. S. Costa, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H. C. Yu, David J. Cutler, Silvia De Rubeis, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Stephan J. Sanders, Michael E. Talkowski
Summary: This study investigated genes associated with functional mutations in individuals with autism spectrum disorder (ASD) and found that some of these genes are also associated with developmental delay (DD). The findings suggest that ASD and DD may share common pathological pathways.
Article
Biochemistry & Molecular Biology
Markus Buelow, David Suessmuth, Laurie D. Smith, Omid Aryani, Claudia Castiglioni, Werner Stenzel, Enrico Bertini, Markus Schuelke, Ellen Knierim
Summary: NEDHND is a neurodevelopmental disorder caused by variants in the SPTBN4 gene, leading to severe neurological dysfunction. Clinical features include severe muscular hypotonia, dysphagia, and delayed speech development.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Psychology, Developmental
Aynur Butun Ayhan, Utku Beyazit, Senay Topuz, Cagla Zeynep Tunay, Maryam Nazhad Abbas, Serkan Yilmaz
Summary: The majority of parents of children with ASD in Turkey have a positive attitude towards genetic testing, believing it can help explain the causes of the disorder and provide better treatment. They also agree to use DNA samples for future studies.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Review
Genetics & Heredity
Keiji Honda, Andrew J. Griffith
Summary: Mutations in SLC26A4 can cause Pendred syndrome and DFNB4, with the CEVA haplotype potentially influencing the phenotype in EVA patients.
Article
Genetics & Heredity
Manuela Schubert Baldo, Celia Nogueira, Cristina Pereira, Patricia Janeiro, Sara Ferreira, Charles M. Lourenco, Anabela Bandeira, Esmeralda Martins, Marina Magalhaes, Esmeralda Rodrigues, Helena Santos, Ana Cristina Ferreira, Laura Vilarinho
Summary: Mitochondrial diseases, characterized by deficient ATP generation, are the most common inherited metabolic disorders. Leigh syndrome (LS) is the most frequent manifestation in children, which has been recently expanded to include Leigh-like presentations. The molecular characterization of LS has advanced from Sanger techniques to next-generation sequencing, allowing for the identification of novel mutations. A Portuguese cohort study on LS patients revealed both mitochondrial DNA and nuclear DNA mutations, contributing to a better understanding of the molecular basis and clinical spectrum of LS.
Article
Health Care Sciences & Services
Fulya Calikoglu, Elif Bagdemir, Selda Celik, Cemile Idiz, Haluk Ozsari, Halim Issever, Ilhan Satman
Summary: This study evaluates the impact of a telemedicine diabetes management system on the quality of care and cost-effectiveness for patients with diabetes. The results show that the TeleDiab group had significantly better glycemic control, kidney function, and lipid parameters compared to the Usual Care group, with greater benefits for patients with type 2 diabetes. Telemedicine is proven to be valuable in the management of chronic diseases.
TELEMEDICINE AND E-HEALTH
(2023)
Review
Rheumatology
Ahmet Burak Dirim, Tugba Kalayci, Seda Safak, Nurane Garayeva, Burak Gultekin, Ozge Hurdogan, Seyhun Solakoglu, Halil Yazici, Kivanc Cefle, Sukru Ozturk, Alaattin Yildiz
Summary: In this study, we report a case of AA-type renal amyloidosis in a young male, which was caused by a chronic inflammatory condition possibly due to HMOX-1 deficiency. Clinical exome sequencing confirmed the diagnosis of HMOX-1 deficiency related to a homozygous missense G139V mutation. To the best of our knowledge, this is the eleventh case of HMOX-1 deficiency reported in the literature and the first report of HMOX-1 deficiency-related systemic AA-type amyloidosis.
CLINICAL RHEUMATOLOGY
(2023)
Article
Public, Environmental & Occupational Health
Ilhan Satman, Safak Bayirlioglu, Funda Okumus, Nazli Erturk, Merve Yemenici, Sedanur Cinemre, Gizem Gulfidan, K. Yalcin Arga, Yeliz D. Merih, Halim Issever
Summary: This study aims to estimate the burden of prediabetes and diabetes in Turkey in 2021 and make projections for 2030 and 2045. The study found that the number of people with diabetes in Turkey has increased in parallel with population growth and aging over the past 11 years and is expected to continue to grow in the coming decades. Therefore, there is an urgent need for re-organization of care and the development and implementation of prevention programs to reduce this burden.
EUROPEAN JOURNAL OF EPIDEMIOLOGY
(2023)
Article
Endocrinology & Metabolism
Mustafa Sahin, Ibrahim Demirci, Cem Haymana, Ilker Tasci, Rifat Emral, Erman Cakal, Ugur Unluturk, Ilhan Satman, Tevfik Demir, Naim Ata, Derun Ertugrul, Aysegul Atmaca, Serpil Salman, Ibrahim Sahin, Selcuk Dagdelen, Osman Celik, Murat Caglayan, Alper Sonmez
Summary: This study aimed to evaluate the impact of pre-existing thyroid dysfunction on COVID-19 morbidity and mortality. The findings revealed that patients with hyperthyroidism or hypothyroidism had higher mortality rates, with a higher risk for mortality in patients with hyperthyroidism.
HORMONE AND METABOLIC RESEARCH
(2023)
Article
Obstetrics & Gynecology
Ozlem Okutman, Manon Boivin, Jean Muller, Nicolas Charlet-Berguerand, Stephane Viville
Summary: By analyzing a large Turkish consanguineous family using whole exome sequencing, a homozygous nonsense variant in HORMAD1 was identified in three affected brothers with nonobstructive azoospermia (NOA). This study contributes to the understanding of the genetic causes of male infertility.
HUMAN REPRODUCTION
(2023)
Article
Health Care Sciences & Services
A. L. Soilly, C. Robert-Viard, C. Besse, A. L. Bruel, B. Gerard, A. Boland, A. Piton, Y. Duffourd, J. Muller, C. Poe, T. Jouan, S. El Doueiri, L. Faivre, D. Bacq-Daian, B. Isidor, D. Genevieve, S. Odent, N. Philip, M. Doco-Fenzy, D. Lacombe, M. L. Asensio, J. F. Deleuze, C. Binquet, C. Thauvin-Robinet, C. Lejeune
Summary: The unit cost per exome sequencing (ES) diagnostic test for intellectual disability (ID) in the French setting was estimated to be 2,019.39 euros. Labor accounted for 50.7% of the total cost, while the analytical step represented 88% of the total cost. Sensitivity analyses showed that a decrease in the prices of the capture kit and sequencing support kit could lower the cost to 1,769 euros per ES diagnostic test for ID.
BMC HEALTH SERVICES RESEARCH
(2023)
Article
Nutrition & Dietetics
Charlotte Elizabeth Louise Evans, Halit Tanju Besler, Oezge Dinc, Michael E. J. Lean, Julie Anne Lovegrove, Nicola M. Lowe, John Mathers, Begum Mutus, Ilhan Satman, Mine D. Tanriover, Alison Tedstone, Claire Theobald, Serhat Unal, Erkki Vartiainen, Rachel Wall, Nazan Yardim, Julian D. Stowell
Summary: Optimum nutrition is crucial for good health. The Nutrition Society of the UK and Ireland and the Sabri ulker Foundation organized a hybrid conference in Istanbul to emphasize the importance of nutrition. The conference aimed to inspire healthcare professionals and policymakers to consider nutrition in their interactions with patients and the public, in order to reduce the prevalence of non-communicable diseases. The event provided an opportunity to share and learn from different approaches and initiatives in the UK, Turkey, and Finland, with a focus on research and translation into nutrition policies.
BRITISH JOURNAL OF NUTRITION
(2023)
Article
Genetics & Heredity
Elif Yilmaz-Gulec, Pauline Marzin, Celine Huber-Lequesne, Valerie Cormier-Daire
Summary: This study reported a unique case with widespread bone cysts involving long tubular bones, iliac bones, and tubular bones of hands and feet, but without D-2-hydroxyglutaric aciduria. A variant of IDH1 R132H was detected in the blood of this patient, expanding the phenotypes of IDH1/IDH2 related enchondromatosis.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Nutrition & Dietetics
Beyza Eliuz Tipici, Ender Coskunpinar, Derya Altunkanat, Penbe Cagatay, Beyhan Omer, Sukru Palanduz, Ilhan Satman, Ferihan Aral
Summary: This randomized controlled trial investigated the effects of probiotic Lactobacillus GG on individuals with type 2 diabetes mellitus. The study found that after 8 weeks of intervention, there was a significant increase in the expression of mucin genes MUC2 and MUC3A in the probiotic group, while there were no significant changes in blood glucose, lipid profile, and inflammatory parameters.
EUROPEAN JOURNAL OF NUTRITION
(2023)
Article
Biochemistry & Molecular Biology
Adella Karam, Clarisse Delvallee, Alejandro Estrada-Cuzcano, Veronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Genin, Richard Redon, Florian Sandron, Anne Boland, Jean-Francois Deleuze, Nicolas Le May, Helene Dollfus, Jean Muller
Summary: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with genetic heterogeneity. This study focuses on a European BBS5 patient and highlights the importance of whole-genome sequencing (WGS) for accurate variant detection, especially for structural variants. The study confirms the impact of BBS5 protein on patient's cells and ciliary function, emphasizing the need for functional tests to assess variant pathogenicity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Veronique Geoffroy, Jean-Baptiste Lamouche, Thomas Guignard, Samuel Nicaise, Arnaud Kress, Sophie Scheidecker, Antony Le Bechec, Jean Muller
Summary: Much of the human genetics variant repertoire is composed of single nucleotide variants (SNV) and small insertion/deletions (indel) but structural variants (SV) remain a major part of our modified DNA. SV detection has often been a complex question to answer either because of the necessity to use different technologies (array CGH, SNP array, Karyotype, Optical Genome Mapping horizontal ellipsis ) to detect each category of SV or to get an appropriate resolution (Whole Genome Sequencing). The AnnotSV webserver aims at being an efficient tool to annotate and interpret SV potential pathogenicity in the context of human diseases, recognize potential false positive variants from all the SV identified, and visualize the patient variants repertoire. The most recent developments in the AnnotSV webserver include updated annotations sources and ranking, three novel output formats for diverse utilization, and two novel user interfaces including an interactive circos view.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Genetics & Heredity
Jean-Marie Ravel, Mathilde Renaud, Jean Muller, Aurelie Becker, Emeline Renard, Thomas Remen, Genevieve Lefort, Mylene Dexheimer, Philippe Jonveaux, Bruno Leheup, Celine Bonnet, Laetitia Lambert
Summary: This retrospective study reanalyzed 1641 Array-CGH performed between 2010 and 2017 and found that 15.7% of CNVs were initially reported as of uncertain significance. After reinterpretation, 40.9% of patients had changes in CNV classification, and 4.6% had VUS reclassified as likely pathogenic. The study highlights the importance of CNV reinterpretation for genetic counseling.
Article
Genetics & Heredity
Aurelie Gouronc, Elodie Javey, Anne-Sophie Leuvrey, Elsa Nourisson, Sylvie Friedmann, Valerie Reichert, Nicolas Derive, Christine Francannet, Boris Keren, Jonathan Levy, Marc Planes, Lyse Ruaud, Jeanne Amiel, Helene Dollfus, Sophie Scheidecker, Jean Muller
Summary: Ciliopathies, rare genetic disorders caused by dysfunction of cilia, often inherit autosomal recessively, but exceptions like UPD or de novo variants exist. In this study, 940 individuals with suspected ciliopathy were examined and a high prevalence of UPD and de novo variants was found in a large cohort of ciliopathies, emphasizing the importance of identifying such rare genetic events for genetic counseling.
Review
Endocrinology & Metabolism
Ilhan Satman
Summary: Maturity-onset diabetes of the young (MODY) is a common monogenic form of diabetes, affecting 1%-5% of diabetes cases. There are at least 14 subtypes of MODY, each with different clinical features and genetic mutations. However, there is a lack of understanding and awareness about the relatively rare mutations in certain genes associated with MODY. Genetic testing using next-generation sequencing is increasing the identification of rare MODY subtypes worldwide. This review aims to highlight the role of clinical features, biomarkers, and genetic testing in the diagnosis of MODY subtypes.
TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM
(2023)
Article
Dentistry, Oral Surgery & Medicine
U. Bengi, I Saygun, V Bal, E. Ozcan, C. Kose Ozkan, D. Torun, F. Avcu, A. Kantarci
Summary: This in vitro study evaluated the effect of antioxidant lycopene on human osteoblasts. The results showed that lycopene had proliferative effects on osteoblasts, which could accelerate wound healing and increase bone regeneration.
CLINICAL ORAL INVESTIGATIONS
(2023)