Respiratory rehabilitation techniques for patients with cystic fibrosis: a protocol for a systematic review and network meta-analysis by Xuefeng Chen, Xinyu Wang, Na Lin, Yilong Tang

“…Introduction Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, primarily affecting the respiratory and digestive systems. …”
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Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever by Abdolreza Malek, Tina Zeraati, Ariane Sadr-Nabavi, Niloofar Vakili, Mohammad Reza Abbaszadegan

“…FMF is an autoinflammatory disease, usually inherited with an autosomal recessive pattern. The patients typically have biallelic mutations in the MEFV gene, located on chromosome 16. …”
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Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) by Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari

“…GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. Early diagnosis of GSD IV is challenging due to non-specific symptoms, such as liver and spleen enlargement, which can overlap with other hematologic and hepatobiliary disorders. …”
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Association between NFKB1 −94ins/del ATTG Promoter Polymorphism and Cancer Susceptibility: An Updated Meta-Analysis by Xiao Yang, Pengchao Li, Jun Tao, Chao Qin, Qiang Cao, Jinbao Gu, Xiaheng Deng, Jun Wang, Xuzhong Liu, Zijie Wang, Bian Wu, Min Gu, Qiang Lu, Changjun Yin

“…We found that the NFKB1 promoter −94ins/del ATTG polymorphism was significantly associated with cancer risk in four genetic models (ins/ins versus del/del, OR = 1.47, 95% CI = 1.11–1.93; dominant model, OR = 1.26, 95% CI = 1.03–1.53; recessive model, OR = 1.26, 95% CI = 1.05–1.51; ins allele versus del allele, OR = 1.19, 95% CI = 1.05–1.35). …”
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Association of endothelial nitric oxide synthase (NOS3) rs2070744 variant with advanced retinopathy of prematurity: a case–control study and meta-analysis by Aneta Choręziak-Michalak, Dawid Szpecht, Tomasz Woźniak, Anna Chmielarz-Czarnocińska, Patrycja Gazińska, Anna Gotz-Więckowska, Ewa Strauss

“…Additional meta-analysis results for NOS3 rs1799983 are presented, suggesting potential risk in a recessive model. No associations were found between EDN1, EDNRA variants, and ROP. …”
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Systematic assessment of COVID-19 host genetics using whole genome sequencing data. by Axel Schmidt, Nicolas Casadei, Fabian Brand, German Demidov, Elaheh Vojgani, Ayda Abolhassani, Rana Aldisi, Guillaume Butler-Laporte, DeCOI host genetics group, T Madhusankha Alawathurage, Max Augustin, Robert Bals, Carla Bellinghausen, Marc Moritz Berger, Michael Bitzer, Christian Bode, Jannik Boos, Thorsten Brenner, Oliver A Cornely, Thomas Eggermann, Johanna Erber, Torsten Feldt, Christian Fuchsberger, Julien Gagneur, Siri Göpel, Tobias Haack, Helene Häberle, Frank Hanses, Julia Heggemann, Ute Hehr, Johannes C Hellmuth, Christian Herr, Anke Hinney, Per Hoffmann, Thomas Illig, Björn-Erik Ole Jensen, Verena Keitel, Sarah Kim-Hellmuth, Philipp Koehler, Ingo Kurth, Anna-Lisa Lanz, Eicke Latz, Clara Lehmann, Tom Luedde, Carlo Maj, Michael Mian, Abigail Miller, Maximilian Muenchhoff, Isabell Pink, Ulrike Protzer, Hana Rohn, Jan Rybniker, Federica Scaggiante, Anna Schaffeldt, Clemens Scherer, Maximilian Schieck, Susanne V Schmidt, Philipp Schommers, Christoph D Spinner, Maria J G T Vehreschild, Thirumalaisamy P Velavan, Sonja Volland, Sibylle Wilfling, Christof Winter, J Brent Richards, DeCOI, André Heimbach, Kerstin Becker, Stephan Ossowski, Joachim L Schultze, Peter Nürnberg, Markus M Nöthen, Susanne Motameny, Michael Nothnagel, Olaf Riess, Eva C Schulte, Kerstin U Ludwig

“…We observed the presence of autosomal-recessive or likely compound heterozygous monogenic disorders in six individuals, all of which were hospitalized and significantly younger than the rest of the cohort. …”
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A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice by Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo

“…Also, 131 autosomal-recessive cases could be partially genetically diagnosed. …”
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The association of genetic polymorphisms in interleukin-1 receptors type 1 and type 2 with age-related hearing impairment in a Taiwanese population: a case control study by Ning-Chia Chang, Hua-Ling Yang, Chia-Yen Dai, Wen-Yi Lin, Hsun-Mo Wang, Chen-Yu Chien, Kuen-Yao Ho

“…The GG genotype of IL1R1 rs3917225 in all hereditary models and the TT genotype of IL1R2 rs2071008 in the recessive model also showed decreased risks of ARHI after adjustments. …”
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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Po... by Dawn A. Laney, Kayla A. Banks, Eleanor G. Botha, Maria Keever, Valynne Long, Allison L. Foley

“…Abstract Background Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. …”
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Case Series of Brittle Cornea Syndrome by Taher Eleiwa, Mariam Raheem, Nimesh A. Patel, Audina M. Berrocal, Alana Grajewski, Mohamed Abou Shousha

“…Genetic workup was performed and confirmed the diagnosis of Brittle Cornea Syndrome, a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. …”
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Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy by Mohammed Al-Owain, Namik Kaya, Hamad Al-Zaidan, Ibrahim Bin Hussain, Hadeel Al-Manea, Hindi Al-Hindi, Shelley Kennedy, M. Anwar Iqbal, Hamad Al-Mojalli, Albandary Al-Bakheet, Anne Puel, Jean-Laurent Casanova, Saleh Al-Muhsen

“…Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). …”
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Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China by Peijin Zhang, Yanyan Zhang, Jing Zhang, Hui Wang, He Ma, Wei Wang, Xiuyin Gao, Hao Xu, Zhaojun Lu

“…We also observed a significantly elevated risk of combined-type BCS associated with CC genotype in the recessive model (OR = 4.44, 95% CI = 1.31–15.12). This study provides statistical evidence that the JAK2 rs4495487 polymorphism is susceptibility factor JAK2 V617F positive BCS and combined BCS in China. …”
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Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN by Yiolanda-Panayiota Christou, George A. Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D. Marshall, Horacio Plotkin, Kleopas A. Kleopa

“…Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression. …”
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A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity by Paal Skytt Andersen, Paula Louise Hedley, Stephen P. Page, Petros Syrris, Johanna Catharina Moolman-Smook, William John McKenna, Perry Mark Elliott, Michael Christiansen

“…Mutations in MYL3, encoding the essential light chain of myosin, are rare and have been associated with sudden death. Both recessive and dominant patterns of inheritance have been suggested. …”
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Pulp stones and kidney stones-related gene: An investigation of single nucleotide polymorphisms in the gene encoding parathyroid hormone by Prescila Mota de Oliveira Kublitski, Bruna de Souza Romano, Vania Gomes Moraes, Manoel Damião Sousa-Neto, Lívia Azeredo Alves Antunes, Erika Calvano Küchler, Leonardo Santos Antunes, João Armando Brancher, Edgard Michel-Crosato, Marilisa Carneiro Leão Gabardo

“…Genotypic and allelic profiles under additive, dominant, and recessive models were evaluated using a univariate logistic regression model and the Wald test, with analyses conducted in SPSS® version 23.0. …”
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Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia by Ziravard N. Tonyan, Yulia A. Nasykhova, Maria M. Danilova, Elena S. Shabanova, Olesya N. Bespalova, Igor Y. Kogan, Andrey S. Glotov

“…Abstract Background Diastrophic dysplasia is a rare autosomal recessive disorder characterized by abnormalities in bone and cartilage development, caused by pathogenic variants in the SLC26A2 gene. …”
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SICKLE CELL TRAIT, CLINICAL MANIFESTATIONS AND OUTCOMES: A CROSS-SECTIONAL STUDY by Diego A Vargas-Hernández, Adriana Catalina Uscategui-Ruiz, Andrés Jesus Prada-Rueda, Consuelo Romero-Sánchez

“… Introduction: Sickle cell trait (SCT) is an autosomal recessive blood disorder in which patients are heterozygous carriers for hemoglobin S (HbAS) and are usually asymptomatic. …”
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Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome. by Brittany E Jewell, An Xu, Dandan Zhu, Mo-Fan Huang, Linchao Lu, Mo Liu, Erica L Underwood, Jun Hyoung Park, Huihui Fan, Julian A Gingold, Ruoji Zhou, Jian Tu, Zijun Huo, Ying Liu, Weidong Jin, Yi-Hung Chen, Yitian Xu, Shu-Hsia Chen, Nino Rainusso, Nathaniel K Berg, Danielle A Bazer, Christopher Vellano, Philip Jones, Holger K Eltzschig, Zhongming Zhao, Benny Abraham Kaipparettu, Ruiying Zhao, Lisa L Wang, Dung-Fang Lee

“…Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma, small stature, skeletal anomalies, sparse brows/lashes, cataracts, and predisposition to cancer. …”
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Lack of HLH in FMF by Ozge Basaran, Erdal Sag, Elif Arslanoglu Aydın, Busra Aydın, Nur Kübra Tasdemir, Elif Celikel, Yagmur Bayındır, Semanur Özdel, Yelda Bilginer, Alexei A Grom, Seza Ozen

“…Familial Mediterranean Fever (FMF), an autosomal recessive disease, is characterized by recurrent fever episodes due to MEFV gene mutations. …”
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Lack of Association of C677T Methylenetetrahydrofolate Reductase Polymorphism with Breast Cancer Risk in Mali by Brehima Diakite, Yaya Kassogue, Mamoudou Maiga, Guimogo Dolo, Oumar Kassogue, Jane L. Holl, Brian Joyce, Jun Wang, Kadidiatou Cisse, Fousseyni Diarra, Mamadou L. Keita, Cheick B. Traore, Bakarou Kamate, Sidi B. Sissoko, Bourama Coulibaly, Adama S. Sissoko, Drissa Traore, Fatoumata M. Sidibe, Sekou Bah, Ibrahim Teguete, Madani Ly, Sellama Nadifi, Hind Dehbi, Kyeezu Kim, Robert Murphy, Lifang Hou

“…The same trend was observed when the analysis was extended to other genetic models, including dominant (p = 0.50), recessive (p = 0.87), and additive (p = 0.50) models. …”
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