In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay by Aurélie Louit, Marie-Josée Beaudet, Mathieu Blais, François Gros-Louis, Nicolas Dupré, François Berthod

“…Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease mainly characterized by spasticity in the lower limbs and poor muscle control. …”
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Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A) by Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov’ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova

“…The accuracy of in silico pathogenicity prediction tools has not been previously assessed for variants associated with autosomal recessive deafness 1A (DFNB1A). Here, we identify in silico tools with the most accurate clinical significance predictions for missense variants of the GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) connexin genes associated with DFNB1A. …”
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Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans by Mariam S. Al Harbi, Ayman W. El-Hattab

“…Therefore, early recognition is critical in preventing morbidity and mortality associated with autosomal recessive PCD.…”
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GJB6-D13S1830 and GJB6-D13S1854 Deletions in Patients with non-Syndromic Prelingual Deafness by Mercedes Arceo Álvarez, Estela Morales Peralta, Yuledmi Perdomo Chacón, Teresa Collazo Mesa

“…<strong>Foundation:</strong> GJB6-D13S1830 and GJB6-D13S1854 deletions are pathogenic variants of the GJB6 gene, which has been shown to be the second cause of autosomal recessive non-syndromic deafness in Spain, where some of our ancestors come from. …”
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De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura by Ibrahim Alharbi, Sarah Alqarni, Wed Khayyat, Amirah Almatrafi

“…Conclusion. cTTP is a rare life-threatening autosomal recessive disease with a high mortality rate. …”
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Clinical, genetic aspects and molecular pathogenesis of osteopetrosis by D. D. Nadyrshina, R. I. Khusainova

“…The disease can be autosomal recessive, autosomal dominant, X-linked or sporadic. …”
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Alpha II Antiplasmin Deficiency Complicating Pregnancy: A Case Report by Brenda Dawley

“…It is inherited in an autosomal recessive fashion. Case. 30-year-old Gravida 1, Para 0, presented for prenatal care with her first and subsequently her second pregnancy. …”
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Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family by Y. N. Khan, M. Imad A.M. Mahmud, N. Othman, H. M. Radzuan, S. Basit

“…Frank–Ter Haar syndrome (FTHS) is a rare genetic hereditary autosomal recessive disorder characterized by defective malformation of cardiovascular, craniofacial, and skeletal system. …”
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Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings by Hortensia De la Corte-Rodriguez, E. Carlos Rodriguez-Merchan, M. Teresa Alvarez-Roman, Ana L. Hernandez-Moreno

“…We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses. …”
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Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations by D. E. Ivanoshchuk, S. V. Mikhailova, O. G. Fenkova, E. V. Shakhtshneider, A. Z. Fursova, I. V. Bychkov, M. I. Voevoda

“…Most cases of PСG are sporadic, but familial cases with an autosomal recessive (predominantly) and autosomal dominant (rare) type of inheritance have been described. …”
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Methyl-Arginine Profile of Brain from Aged PINK1-KO+A53T-SNCA Mice Suggests Altered Mitochondrial Biogenesis by Georg Auburger, Suzana Gispert, Nadine Brehm

“…Hereditary Parkinson’s disease can be triggered by an autosomal dominant overdose of alpha-Synuclein (SNCA) or the autosomal recessive deficiency of PINK1. We recently showed that the combination of PINK1-knockout with overexpression of A53T-SNCA in double mutant (DM) mice potentiates phenotypes and reduces survival. …”
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Molecular basis and genetics of hypohidrotic ectodermal dysplasias by V. A. Kovalskaia, T. Cherevatova, A. V. Polyakov, O. P. Ryzhkova

“…The ectodysplasin A (EDA) gene is the cause of the most common X-linked form of ED, a gene from the Wnt family (WNT10A) is responsible for the autosomal recessive form of the disease, and two other genes (EDAR and EDARADD) can cause both autosomal recessive and autosomal dominant forms. …”
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A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa by Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen

“…For dystrophic epidermolysis bullosa, loss-of-function variants are typically associated with the autosomal recessive form, while missense variants are linked to the autosomal dominant form. …”
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Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature by Emma Billington, Geneviève Bernard, William Gibson, Bernard Corenblum

“…Introduction. 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. …”
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A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases by Reema Iskafi MD, Bahaa AbuRahmeh MD, Roa’a Aljuneidi MD, Hidaya AlShweiki MD, Siraj Abdelnabi MD, Anas Abukhalaf MBBS, Bara’ Maraqa PBoS

“…The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. …”
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Modern classification and molecular-genetic aspects of osteogenesis imperfecta by A. R. Zaripova, R. I. Khusainova

“…Osteogenesis imperfecta occurs in both men and women, the disease is inherited in both autosomal dominant and autosomal recessive types, there are sporadic cases of the disease due to de novomutations, as well as X-linked forms. …”
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Anesthesic Management for Escobar Syndrome: Case Report by Ayse Hande Arpaci, Fusun Bozkirli, Onur Konuk

“…Escobar syndrome is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity. …”
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Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report by Azka Noor, Digbijay Kunwar, Zahra Tasneem, Saad Ameer Ishaq

“…ABSTRACT This case report highlights the clinical complexity of Bardet‐Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management. …”
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Cognitive Impairment in Genetic Parkinson’s Disease by A. Planas-Ballvé, D. Vilas

“…In this review, we summarize data regarding cognitive function on clinical studies, neuroimaging, and biological markers of cognitive decline in autosomal dominant PD linked to mutations in LRRK2 and SNCA, autosomal recessive PD linked to Parkin and PINK1, and also PD linked to GBA mutations.…”
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Sanjad-Sakati Syndrome and Its Association with Superior Mesenteric Artery Syndrome by Osamah Abdullah AlAyed

“…Sanjad-Sakati syndrome (SSS) is an autosomal recessive disorder found exclusively in people of Arabian origin. …”
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