Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings by Shishir Ram Shetty, Deepa Dsouza, Subhas Babu, Preethi Balan

“…Genetic factors play a very important role in the pathogenesis of OI either as a dominant or recessive factor. When a child has OI, there is a 25% chance of the sibling to have the same disorder. …”
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Lens Extrusion from Laminin Alpha 1 Mutant Zebrafish by Mallika Pathania, Elena V. Semina, Melinda K. Duncan

“…We report analysis of the ocular lens phenotype of the recessive, larval lethal zebrafish mutant, lama1a69/a69. …”
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GENETIC CONTROL OF ANTHOCYANIN COLORATION IN RYE by A. V. Voylokov, A. N. Lykholay, V. G. Smirnov

“…For this reason, genetic analysis was performed only for traits with stable manifestation. Six recessive genes vi1–vi6 were identified, whose homozygous state led to the absence of anthocyanin from the whole plant. …”
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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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A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome by Soreya BELARBI, Samira Makri MOKRANE

“…The majority of familial cases are autosomal recessive, with a female to male ratio of 3:1. We describe the clinical case of a 14 years-old boy with BVVLS who presented from a young age with progressive sensorineural hearing loss of insidious onset, followed by atrophy of the tongue with fasciculations. …”
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Iron- Refractory Iron Deficiency Anemia: Review Article by Eman Ahmed Abd -Elmawgood, Mohammed H. Hassan, Dina Hussein Mobark, Nagwan Ibrahim Rashwan

“…Background: IRIDA is an inherited recessive anaemia caused by a defect in the TMPRSS6 gene, which codes for the enzyme matriptase-2. …”
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ALLELIC DIVERSITY OF THE <i> Ppd </i> AND <i> VRN </i> GENES INVOLVED IN CONTROL OF THE DURATION OF SHOOTING-EARING STAGE IN DAGESTANIAN BARLEY ACCESSIONS by R. A. Abdullaev, N. V. Alpatieva, Yu. I. Karabitsina, I. A. Zveinek, B. A. Batasheva, I. N. Anisimova, E. E. Radchenko

“…In 207 barley accessions the dominant and recessive alleles of the Ppd and VRN genes involved in control of the period between shooting and earing stages were identified with the use of allele-specific molecular markers. …”
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Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis by Anneke B. Oostra, Aggie W. M. Nieuwint, Hans Joenje, Johan P. de Winter

“…The mode of inheritance for all subtypes is autosomal recessive, except for FA-B, which is X-linked. Cells derived from FA patients are—by definition—hypersensitive to DNA cross-linking agents, such as mitomycin C, diepoxybutane, or cisplatinum, which becomes manifest as excessive growth inhibition, cell cycle arrest, and chromosomal breakage upon cellular exposure to these drugs. …”
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Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family by E. M. Abdalla, H. Morsy

“…Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. …”
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Modeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACS by Valentina Naef, Devid Damiani, Rosario Licitra, Maria Marchese, Stefania Della Vecchia, Matteo Baggiani, Letizia Brogi, Daniele Galatolo, Silvia Landi, Filippo Maria Santorelli

“…Biallelic mutations in the SACS gene, encoding sacsin, cause early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disease also characterized by unique and poorly understood retinal abnormalities. …”
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Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene by Agnieszka Murawska, Kamil Możdżeń, Grzegorz Horosin, Edward Pędziwiatr, Joanna Makowska, Jakub Pośpiech, Konrad Kaleta, Dorota Drożdż, Katarzyna Zachwieja

“…Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder, resulting from mutations in various genes, including TTC8. …”
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Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy by Svetlana F. Khaiboullina, Ekaterina V. Martynova, Sergey N. Bardakov, Mikhail O. Mavlikeev, Ivan A. Yakovlev, Arthur A. Isaev, Roman V. Deev, Albert A. Rizvanov

“…Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting. It is an autosomal recessive disease, with currently 140 mutations in the LGMD2B gene identified. …”
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Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene by Salma M. Wakil, Dorota Monies, Samya Hagos, Fahad Al-Ajlan, Josef Finsterer, Aisha Al Qahtani, Khushnooda Ramzan, Rawan Al Humaidy, Mohamed A. Al-Muhaizea, Brian Meyer, Saeed A. Bohlega

“…We employed homozygosity mapping and exome sequencing which is an efficient strategy to characterize the recessive genes, thus obtaining a rapid molecular diagnosis for genetically heterogeneous disorders like HSAN. …”
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Papillion-Lefèvre Syndrome: Periodontists’ Perspective by Sunil Kumar Biraggari, K. Krishna Mohana Reddy, J. Sudhakar, Shiva Shankar Bugude, Rajesh Nichenametla, Mazher Ahmed Hakeem, Swati Reddy Tiyyagura

“…Papillion-Lefèvre Syndrome is a very rare disorder of autosomal recessive inheritance distinguished by palmar plantar hyperkeratosis and early onset of periodontitis affecting the dentition. …”
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The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness by Kristina Narfström, Koren Holland Deckman, Marilyn Menotti-Raymond

“…The first model is the autosomal recessive, slowly progressive, late-onset, rod-cone degenerative disease caused by a mutation in the CEP290 gene. …”
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Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia by Leema Reddy Peddareddygari, Raji P. Grewal

“…We report a patient with autosomal recessive (AR) HSP in whom laboratory investigations revealed hypobetalipoproteinemia raising the possibility of a shared pathophysiology of these clinical features. …”
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Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review by Maria Veatriki Christodoulou, MD, MSc, Nikoletta Anagnostou, MD, MSc, Anastasia K. Zikou, MD, PhD

“…Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder, manifesting with gastrointestinal dysmotility, cachexia, ptosis and peripheral neuropathy. …”
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Late diagnosed factor VII deficiency – a rare but significant haemorrhagic diathesis by Karolina Małgorzata Różycka, Beata Kuczyńska, Kinga Podsiadło, Małgorzata Mitura-Lesiuk, Irena Woźnica- Karczmarz

“…Factor VII (FVII) deficiency is a rare but significant inherited autosomal recessive coagulation disorder, occurring with a frequency of 1 in 300,000-500,000 people. …”
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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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Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene by María-Belén Moreno-Risco, Manuel Méndez, María-Isabel Moreno-Carralero, Ana-María López-Moreno, José-Manuel Vagace-Valero, María-José Morán-Jiménez

“…Juvenile hemochromatosis type 2a and 2b is an autosomal recessive disease caused by pathogenic variants in HJV and HAMP genes, respectively. …”
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