VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review by Jan Kafol, Barbara Gnidovec Strazisar, Ana Drole Torkar, Matjaz Homan, Sara Bertok, Matej Mlinaric, Jaka Sikonja, Jernej Kovač, Mirjana Perkovic Benedik, Tanja Kersnik Levart, Mojca Zerjav Tansek, Marina Praprotnik, Tadej Battelino, Maruša Debeljak, Urh Groselj

“…Abstract Background Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor. …”
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Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report by Maxime Agranier, Florence Demurger, Christele Dubourg, Jerome Fromageot, Anne-Sophie Cabaret Dufour, Erika Launay, Magalie Gournay, Charles Lefèvre, Roseline Froissart, Magali Pettazzoni, Paul Rollier

“…Abstract Background Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. …”
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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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Primary exocrine pancreatic insufficiency in children (a clinical case of Shwachman-Diamond syndrome) by V.S. Berezenko, Yu.I. Proshchenko, Kh.Z. Mykhayluk, M.B. Dyba, O.M. Tkalik, Yu.O. Savenko

“…Shwachman-Diamond syndrome is an autosomal recessive disease characterized by absolute exocrine pancreatic insufficiency and is the second most common form of primary exocrine pancreatic insufficiency. …”
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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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Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency by Ana María Navarro, Gabriela Mantilla, Jorge Andrés Fernández, Mario Fernando Unigarro, Alfonso Suárez, María Claudia Ortega

“…Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. …”
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Fetal medicine and current practice of prenatal screening by Akshatha Prabhu

“…The option for NIPS is now preferred by most parents undergoing pre-conception genetic counselling and confirmed to be carriers for an autosomal recessive genetic disease. The prenatal screening is the best choice for secondary prevention of genetic condition. …”
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Healthcare Resource Utilization and Costs Associated with Autosomal Dominant Polycystic Kidney Disease by Christopher M. Blanchette, Şerban R. Iorga, Aylin Altan, Jerry G. Seare, Ying Fan, Sandro Rossetti, Benjamin Gutierrez

“…**Methods:** Patients diagnosed with ADPKD (two or more claims) with ≥30 days of continuous medical and pharmacy benefits and no evidence of autosomal recessive polycystic kidney disease were selected (Optum Research Database and Impact National Benchmarking Database: 1/1/06–8/31/12). …”
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Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency by Nadia Charfi, Mahdi Kamoun, Mouna Feki Mnif, Neila Mseddi, Fatma Mnif, Nozha Kallel, Basma Ben Naceur, Nabila Rekik, Hela Fourati, Emna Daoud, Zainab Mnif, Mourad Hadj Sliman, Tahia Sellami-Boudawara, Mohamed Abid

“…Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. …”
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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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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. …”
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Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient by Melisa Taboas, Cecilia Fernández, Susana Belli, Noemi Buzzalino, Liliana Alba, Liliana Dain

“…Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90%–95% of cases. This autosomal recessive disorder has a broad spectrum of clinical forms, ranging from severe or classical, which includes the salt-wasting and simple virilizing forms, to the mild late onset or nonclassical form. …”
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Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study by Hanım Babazade, Tanyel Zubarioglu, Esma Uygur, Mehmet Şerif Cansever, Ertuğrul Kiykim, Çiğdem Aktuğlu Zeybek

“…Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive fatty acid oxidation disorder resulting in energy deficiency due to impaired mitochondrial long-chain fatty acid transport. …”
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Fetal Tetra-Amelia Birth: A Case Report by Eyob Asefa Belay, Anberbir Girma Asebot, Bezza Kedida Dabi

“…Genetic inheritance of tetra-amelia may present as autosomal dominance, autosomal recessive, or X-linked recessive. The protein coded on WTN 3 on chromosome 17q21 is important for fetal limb and other organ system formation. …”
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Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T by Holli M. Drendel, Jason E. Pike, Katherine Schumacher, Karen Ouyang, Jing Wang, Mary Stuy, Stephen Dlouhy, Shaochun Bai

“…Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder that leads to a defect in fatty acid oxidation. …”
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PHARC syndrome: an overview by Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer

“…Abstract PHARC, polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and cataracts, or PHARC is a very rare progressive neurodegenerative autosomal recessive disease caused by biallelic mutations in the ABHD12 (a/b-hydrolase domain containing 12) gene, which encodes a lyso-phosphatidylserine (lyso-PS) lipase. …”
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Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations by Jia-Der Ju-Wang, Jennifer C. Dempsey, Cristian Zhang, Daniel Doherty, Manisha Witmans, Mary Anne Tablizo, Maida Lynn Chen

“…Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the “molar tooth sign” which involves the breathing control center and its connections with other structures. …”
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First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis by Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu

“…Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. …”
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Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish by Linxue Meng, Zhixu Fang, Li Jiang, Yinglan Zheng, Siqi Hong, Yu Deng, Lingling Xie

“…Previous studies have reported that STT3A-CDG is caused by autosomal recessive inheritance. However, in this study, we propose that STT3A-CDG can be pathogenic through autosomal dominant inheritance. …”
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