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. …”
Get full text

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. …”
Get full text

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). …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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). …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

A Rare Case Presentation of Synovial Haemangioma of the Knee by Arun Karthik Ravichandran, Rajavel, Gowtham Senguttavan, Sharath Rajkumar, Saravanan Vasudevan

“…Following further investigations, an MRI of the left knee showed evidence of T1 hypointense and T2 moderate Short Tau Inversion Recovery (STIR) hyperintense soft-tissue lesions involving the anterior and posterior recess of the synovium of the knee joint with finger-like projections, which is considered one of the definitive findings of synovial haemangioma. …”
Get full text

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis by Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Carlo Di Donato, Alfredo Pontecorvi, Salvatore Maria Corsello

“…Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway. …”
Get full text

The Influence of Interleukin 17A and IL17F Polymorphisms on Chronic Periodontitis Disease in Brazilian Patients by Joana Maira Valentini Zacarias, Emília Ângela Sippert, Patrícia Yumeko Tsuneto, Jeane Eliete Laguila Visentainer, Cléverson de Oliveira e Silva, Ana Maria Sell

“…IL17A AA genotype was more frequent in patients with chronic periodontitis (CP) in the codominant and recessive models (P=0.09; OR = 2.53 and P=0.03; OR = 2.46, resp.), the females with CP (P=0.01, OR = 4.34), Caucasoid patients with CP (P=0.01, OR = 3.45), and nonsmoking Caucasian patients with CP (P=0.04, OR = 3.51). …”
Get full text

The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate by Laetitia Clotaire, Isabelle Rubera, Christophe Duranton, Jocelyn Gal, Emmanuel Chamorey, Hélène Humeau, Samir Yamani, Christine Chiaverini, Serge Willoteaux, Bernard Padovani, Laurie Mourozeau, Adam Mainguy, Stéphanie Baillif, Ludovic Martin, Georges Leftheriotis

“…Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch’s membrane. …”
Get full text