Study of vascular endothelial dysfunction in children with beta-thalassemia major before and after quercetin therapy by Fatma Al Zahraa Sherai, Maaly Mabrouk, Ibrahim Badraia, Adel Hagag, Eman Elaskary

“…Abstract Background Beta-thalassemia stands as an autosomal recessive disorder that occurs as a result of a defect in the beta-globin chain synthesis of hemoglobin. …”
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Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review by Su J, Zeng L, Chen H, Tong J, Chen Y, Huang L, Deng L, Huang Y

“…Junyou Su,1,* Lingdong Zeng,2,* Hongfei Chen,1 Junru Tong,1 Yan Chen,1 Lingling Huang,1 Li Deng,1 Yan Huang1 1Department of Obstetrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530007, People’s Republic of China; 2Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530007, People’s Republic of China*These authors contributed equally to this workCorrespondence: Li Deng; Yan Huang, Email dengli@gxmu.edu.cn; huangyanHY2020@163.comBackground: COX20-related mitochondrial complex IV deficiency is a rare autosomal recessive metabolic disorder that arises from biallelic loss-of-function mutations. …”
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Impact of elexacaftor-tezacaftor-ivacaftor in lung transplantation for cystic fibrosis in the United States by Tahuanty A. Pena, MD, MS, Brittany Wright, PharmD, Kalpaj R. Parekh, MBBS, Julia Kleney-Tait, MD, PhD

“…Background: Cystic fibrosis (CF) is an autosomal recessive condition leading to progressive lung disease and often necessitating lung transplantation. …”
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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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Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review by Ankita Umrao, Monika Pahuja, Nabendu Sekhar Chatterjee

“…Methods Three electronic databases, Cochrane, PubMed and Google Scholar, were searched with terms such as ‘Omaveloxolone’, ‘Friedreich ataxia’, ‘genetic diseases’, ‘autosomal recessive’, and ‘rare disorders’ using various advanced search filters. …”
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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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Normalization of Cystic Fibrosis Immune System Reverses Intestinal Neutrophilic Inflammation and Significantly Improves the Survival of Cystic Fibrosis MiceSummary by Callie E. Scull, Yawen Hu, Scott Jennings, Guoshun Wang

“…Background & Aims: Cystic fibrosis (CF) is an autosomal recessive genetic disorder, affecting multiple organ systems. …”
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Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and... by Holly Lumgair, Lisa Bashorum, Alasdair MacCulloch, Elizabeth Minas, George Timmins, Drago Bratkovic, Richard Perry, Medi Stone, Vasileios Blazos, Elisabetta Conti, Raymond Saich

“…**Background:** Late-onset Pompe disease (LOPD) is a rare, autosomal recessive metabolic disorder that is heterogeneous in disease presentation and progression. …”
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Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families by Maria Valencia, Lara Tabet, Nadine Yazbeck, Alia Araj, Victor L. Ruiz-Perez, Khalil Charaffedine, Farah Fares, Rebecca Badra, Chantal Farra

“…Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. …”
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A compound heterozygous ADAMTS13 mutation causes congenital thrombotic thrombocytopenic purpura: a case report by Yezi Huang, Lixia Zhou, Yuan Song, Wanting Zou, Aiping Tang, Si Tao, Duozhuang Tang

“…Congenital thrombotic thrombocytopenic purpura (cTTP) is a thrombotic microangiopathy (TMA) characterized by severe hereditary ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13) deficiency caused by ADAMTS13 mutations. This rare autosomal recessive genetic disorder is often misdiagnosed as immune thrombocytopenia (ITP) or hemolytic uremic syndrome (HUS). …”
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Anti-VEGF-therapy for pseudoxanthoma elasticum (case reports) by A.D. Chuprov, S.M. Kim, E.A. Pidodniy, A.M. Iserkepova

“…Fyodorov Eye Microsurgery Federal State Institution, Orenburg, Russian Federation </p> <p> <br> </p> <p> Pseudoxanthoma elasticum (PXE), also known as Gröenblad-Strandberg syndrome, is a rare autosomal recessive disease affecting the skin, eyes, gastrointestinal tract, and cardiovascular system. …”
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Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency by Katja Dumic, Tony Yuen, Zorana Grubic, Vesna Kusec, Ingeborg Barisic, Maria I. New

“…Mutations in the CYP11B1 gene, which encodes steroid 11β-hydroxylase, are responsible for this autosomal recessive disorder. Here, we describe the molecular genetics of two previously reported male siblings in whom diagnosis of 11β-OHD has been established based on their hormonal profiles displaying high levels of 11-deoxycortisol and hyperandrogenism. …”
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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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A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants by Bashar Kamal Ali Douden, Yazan Mohammad Abdullah Abufara, Mahmood Fayez Ali Aldrabeeh, Naela Ramadan Mohammad Tell, Ismail Abudaya

“…Abstract Background Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. …”
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Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency by Nanis S. Marzuki, Firman P. Idris, Hannie D. Kartapradja, Alida R. Harahap, Jose R. L. Batubara

“…The 5-alpha-reductase type 2 deficiency (5ARD2) is an autosomal recessive condition associated with impairment in the conversion of testosterone to dihydrotestosterone. …”
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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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Adverse Events of the BCG (Bacillus Calmette–Guérin) and Rotavirus Vaccines in a Young Infant with Inborn Error of Immunity by Suleiman Al-Hammadi, Najla S. Alkuwaiti, Ghassan A. Ghatasheh, Huda Al Dhanhani, Hiba M. Shendi, Abdulghani S. Elomami, Farida Almarzooqi, Abdul-Kader Souid

“…This variant creates premature stop-gain in CD3D (CD3 antigen, delta subunit, autosomal recessive; MIM#186790), resulting in loss-of-function. …”
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N-acetylglutamate synthetase deficiency - literature review by Krystian Wdowiak, Agnieszka Maciocha, Julia Wąż, Aleksandra Witas, Justyna Drogoń, Weronika Chachaj, Natalia Szymkowiak, Ewa Gardocka

“… Introduction and Objective: N-Acetylglutamate Synthetase Deficiency (NAGSD) is a rare urea cycle disorder, primarily caused by autosomal recessive genetic mutations. Most affected individuals are homozygous for the disease-causing allele. …”
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Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families by Abdulfatah M. Alayoubi, Ambreen Ijaz, Abdul Wali, Jamil A. Hashmi, Azizah Alharbi, Sulman Basit

“…Both variants were segregating in an autosomal recessive manner in the respective families.Conclusion The present study has added a novel nonsense mutation to the mutation spectrum of PEX19, which is the second null mutation identified to date. …”
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