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https://www.readbyqxmd.com/read/28922056/secondary-defects-detected-by-transmission-electron-microscopy-in-primary-ciliary-dyskinesia-diagnostics
#1
Mellisa Dixon, Amelia Shoemark
Primary ciliary dyskinesia (PCD) is predominantly an autosomal recessively inherited condition that affects ~1 in 15,000 people. Diagnosis of PCD can be complex and is ordinarily based on the results of multiple investigations. These investigations include nasal nitric oxide, high-speed video microscopy, genotyping, and electron microscopy analysis of ciliary ultrastructure. A diagnosis is ultimately confirmed by the presence of a hallmark defect identified by transmission electron microscopy or biallelic variants in a known PCD gene...
September 18, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28920109/papillon-lef%C3%A3-vre-syndrome-a-series-of-three-cases-in-the-same-family-and-a-literature-review
#2
Jasbir D Upadhyaya, Dustin Pfundheller, Mohammed N Islam, Indraneel Bhattacharyya
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder that exhibits palmoplantar keratosis and early severe periodontitis. The oral disease affects both the primary and permanent dentitions leading to premature exfoliation of teeth. Various etiologic factors, such as genetic mutations, immunologic alterations, and bacteria have been implicated in PLS. Genetic mutations leading to the loss of function of cathepsin C (CTSC) gene, located on chromosome 11q14, is considered pivotal in this condition...
2017: Quintessence International
https://www.readbyqxmd.com/read/28920035/anesthesia-management-of-a-patient-with-papillon-lefevre-syndrome-a-case-report
#3
Afshin Iranpour, Ata Mahmoodpoor
INTRODUCTION: Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive trait; it often requires some interventions with general anesthesia because of the accompanied complications. CASE PRESENTATION: We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia. CONCLUSIONS: There are only a few studies about perioperative management of these patients; however, the anesthesiologists should consider a few important issues during pre-operative and intra-operative management...
February 2017: Anesthesiology and Pain Medicine
https://www.readbyqxmd.com/read/28918053/ush2a-gene-editing-using-the-crispr-system
#4
Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D Sequedo, Carmen Ayuso, Rafael P Vázquez-Manrique, José M Millán, Elena Aller
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are associated with this disorder, with USH2A being the most prevalent, due partially to the recurrence rate of the c.2299delG mutation. Excluding hearing aids or cochlear implants for hearing impairment, there are no medical solutions available to treat USH patients. The repair of specific mutations by gene editing is, therefore, an interesting strategy that can be explored using the CRISPR/Cas9 system...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28917830/al-awadi-raas-rothschild-syndrome-with-dental-anomalies-and-a-novel-wnt7a-mutation
#5
Piranit Nik Kantaputra, Seema Kapoor, Prashant Verma, Massupa Kaewgahya, Katsushige Kawasaki, Atsushi Ohazama, James R Ketudat Cairns
Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WNT7A function has been shown to cause AARRS, however, its partial loss leads to the milder malformation, Fuhrmann syndrome. An Indian boy affected with AARRS is reported. A novel homozygous base substitution mutation c...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28916395/pachydermoperiostosis-the-value-of-molecular-diagnosis
#6
V Seta, Y Capri, M Battistella, M Bagot, E Bourrat
BACKGROUND: Pachydermoperiostosis is a rare autosomal recessive genetic disorder characterized by the association of periostosis and pachydermia. To date, two genes involved in prostaglandin metabolism, HPGD and SLCO2A1, have been identified. PATIENTS AND METHODS: A 7-year-old girl presented digital clubbing of the hands and feet, curved nails, hyperhidrosis, and pachydermia, as well as eczema of the trunk and limbs. The diagnosis of pachydermoperiostosis was confirmed by the detection of a homozygous mutation in the HPGD gene...
September 12, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28916377/clinical-and-molecular-characterization-of-two-chinese-patients-with-type-2-congenital-generalized-lipodystrophy
#7
Ruimin Chen, Xin Yuan, Jian Wang, Ying Zhang
BACKGROUND: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. METHODS: Medical history, clinical manifestations, physical examination, laboratory data, and ultrasonography findings were analyzed for the two patients with CGL2...
September 12, 2017: Gene
https://www.readbyqxmd.com/read/28916186/clinical-immunological-and-genetic-spectrum-of-696-patients-with-combined-immunode%C3%AF-ciency
#8
Hassan Abolhassani, Janet Chou, Wayne Bainter, Craig Platt, Mahmood Tavassoli, Toba Momen, Marzieh Tavakol, Mohammad Hossein Eslamian, Mohammad Gharagozlou, Masoud Movahedi, Mohsen Ghadami, Amir Ali Hamidieh, Gholamreza Azizi, Reza Yazdani, Mohsen Afarideh, Alireza Ghajar, Arash Havaei, Zahra Chavoushzadeh, Seyed Alireza Mahdaviani, Taher Cheraghi, Nasrin Behniafard, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari-Azad, Mohammamd Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Delara Babaie, Iraj Mohammadzadeh, Javad Ghaffari, Alireza Shafiei, Najmeddin Kalantari, Hamid Ahanchian, Maryam Khoshkhui, Habib Soheili, Abbas Dabbaghzadeh, Afshin Shirkani, Rasoul Nasiri Kalmarzi, Seyed Hamidreza Mortazavi, Javad Tafaroji, Abbas Khalili, Javad Mohammadi, Babak Negahdari, Mohammad-Taghi Joghataei, Basel K Al-Ramadi, Capucine Picard, Nima Parvaneh, Nima Rezaei, Talal Chatila, Michel J Massaad, Sevgi Keles, Lennart Hammarström, Raif S Geha, Asghar Aghamohammadi
BACKGROUND: Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited. OBJECTIVES: This study aims to characterize the categories of CID patients in Iran clinically and genetically. METHODS: Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and non-syndromic CIDs (352 patients)...
September 12, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28915934/increased-yap-activation-is-associated-with-hepatic-cyst-epithelial-cell-proliferation-in-arpkd-chf
#9
Lu Jiang, Lina Sun, Genea Edwards, Michael Manley, Darren Wallace, Seth Septer, Chirag Manohar, Michele T Pritchard, Udayan Apte
Autosomal recessive polycystic kidney disease/congenital hepatic fibrosis (ARPKD/CHF) is a rare but fatal genetic disease characterized by progressive cyst development in the kidneys and liver. Liver cysts arise from aberrantly proliferative cholangiocytes accompanied by pericystic fibrosis and inflammation. Yes associated protein (YAP), the downstream effector of the Hippo signaling pathway, is implicated in human hepatic malignancies such as hepatocellular carcinoma, cholangiocarcinoma, and hepatoblastoma, but its role in hepatic cystogenesis in CHF/ARPKD is unknown...
September 15, 2017: Gene Expression
https://www.readbyqxmd.com/read/28915117/molecular-genetic-and-clinical-delineation-of-22-patients-with-congenital-hypogonadotropic-hypogonadism
#10
Kohei Aoyama, Haruo Mizuno, Tatsushi Tanaka, Takao Togawa, Yutaka Negishi, Kei Ohashi, Ikumi Hori, Masako Izawa, Takashi Hamajima, Shinji Saitoh
BACKGROUND: Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH. METHODS: We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation and Sanger sequencing. RESULTS: We detected 12 potentially pathogenic mutations in 11 families, with three having a mutation in ANOS1 (X-linked recessive); three and four having a mutation in FGFR1 and CHD7, respectively (autosomal dominant); and one having two TACR3 mutations (autosomal recessive)...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28915070/value-of-transmission-electron-microscopy-for-primary-ciliary-dyskinesia-diagnosis-in-the-era-of-molecular-medicine-genetic-defects-with-normal-and-non-diagnostic-ciliary-ultrastructure
#11
Adam J Shapiro, Margaret W Leigh
Primary ciliary dyskinesia (PCD) is a genetic disorder causing chronic oto-sino-pulmonary disease. No single diagnostic test will detect all PCD cases. Transmission electron microscopy (TEM) of respiratory cilia was previously considered the gold standard diagnostic test for PCD, but 30% of all PCD cases have either normal ciliary ultrastructure or subtle changes which are non-diagnostic. These cases are identified through alternate diagnostic tests, including nasal nitric oxide measurement, high-speed videomicroscopy analysis, immunofluorescent staining of axonemal proteins, and/or mutation analysis of various PCD causing genes...
September 15, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28914427/the-clinical-and-genetic-spectrum-of-maroteaux-lamy-syndrome-mucopolysaccharidosis-vi-in-the-eastern-province-of-saudi-arabia
#12
Nouriya Abbas Al-Sannaa, Hind Yousif Al-Abdulwahed, Sami Ibrahim Al-Majed, Issam Hassan Bouholaigah
Mucopolysaccharidosis (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine 4-sulfatase or arylsulfatase B. It is involved in the degradation of glycosaminoglycans and characterized by a wide spectrum of clinical and genetic heterogeneity. So far, more than 150 mutations have been reported in the ARSB gene. Most of these mutations are either novel, private, or compound heterozygous making phenotype-genotype correlation as well as population screening difficult...
September 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28913705/variable-park2-mutations-cause-early-onset-parkinson-s-disease-in-a-small-restricted-population
#13
Shay Ben-Shachar, Zaid Afawi, Rafik Masalha, Samih Badarny, Tova Neiman, Dina Pavzner, Anat Bar-Shira, Avi Orr-Urtreger
Early-onset Parkinson's disease (EOPD) is less common than the typical adult-onset PD and may be associated with a genetic etiology. Mutations in several genes are known to cause autosomal recessive (AR) PD. This study aimed to detect the etiology of EOPD in consanguineous families or families living in a specific small geographic region in Israel. Six families with EOPD affecting more than a single individual were recruited. Homozygous mapping analysis using a single-nucleotide polymorphism-based array was performed in all families, followed by Sanger sequencing of related genes based on the mapping results...
September 15, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28913151/harlequin-ichthyosis-a-rare-case
#14
Belide Shruthi, B R Nilgar, Anita Dalal, Nehaben Limbani
Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. The prognosis is very poor in these cases. Here, we report one such rare case.
June 2017: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28912962/gene-panel-sequencing-in-brazilian-patients-with-retinitis-pigmentosa
#15
Kárita Antunes Costa, Mariana Vallim Salles, Chris Whitebirch, John Chiang, Juliana Maria Ferraz Sallum
BACKGROUND: Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by a progressive loss of peripheral field vision (Tunnel Vision), eventual loss of central vision, and progressive night blindness. The characteristics of the fundus changes include bone-spicule formations, attenuated blood vessels, reduced and/or abnormal electroretinograms, changes in structure imaged by optical coherence tomography, and subjective changes in visual function...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/28912669/identification-of-novel-mutations-in-congenital-afibrinogenemia-patients-and-molecular-modeling-of-missense-mutations-in-pakistani-population
#16
Arshi Naz, Arijit Biswas, Tehmina Nafees Khan, Anne Goodeve, Nisar Ahmed, Nazish Saqlain, Shariq Ahmed, Ikram Din Ujjan, Tahir S Shamsi, Johannes Oldenburg
BACKGROUND: Congenital afibrinogenemia (OMIM #202400) is a rare coagulation disorder that was first described in 1920. It is transmitted as an autosomal recessive trait that is characterized by absent levels of fibrinogen (factor I) in plasma. Consanguinity in Pakistan and its neighboring countries has resulted in a higher number of cases of congenital fibrinogen deficiency in their respective populations. This study focused on the detection of mutations in fibrinogen genes using DNA sequencing and molecular modeling of missense mutations in all three genes [Fibrinogen gene alpha (FGA), beta (FGB) and gamma (FGG)] in Pakistani patients...
2017: Thrombosis Journal
https://www.readbyqxmd.com/read/28912111/crispr-cas9-mediated-g4946e-substitution-in-the-ryanodine-receptor-of-spodoptera-exigua-confers-high-levels-of-resistance-to-diamide-insecticides
#17
Yayun Zuo, Hui Wang, Yanjun Xu, Jianlei Huang, Shuwen Wu, Yidong Wu, Yihua Yang
Diamide insecticides selectively activate insect ryanodine receptors (RyRs), inducing uncontrolled release of calcium ions, and causing muscle contraction, paralysis and eventually death. The RyR(G4946E) substitution associated with diamide resistance has been identified in three lepidopteran pests, Plutella xylostella, Tuta absoluta and Chilo suppressalis. Recently, the T. absoluta RyR(G4946V) mutation was knocked into the model insect Drosophila melanogaster by CRISPR/Cas9 mediated genome editing and provided in vivo functional confirmation for its role in diamide resistance...
September 11, 2017: Insect Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28911234/mucopolysaccharidosis-iiib-sanfilippo-syndrome-b-in-a-commercial-emu-dromaius-novaehollandiae-flock
#18
Seiche C Genger, Keijiro Mizukami, Michael P Martin, Jeffrey R Applegate, H John Barnes, Urs Giger
Clinicopathological diagnosis of mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo syndrome B), an inherited autosomal recessive lysosomal storage disease, as a cause of losses in a commercial emu flock and screening breeders using a mutation specific DNA test are described. Between 2012 and 2015, ∼5-10 juvenile emus from a few weeks to several months of age developed progressive neurological signs and died while others in the flock remained healthy. Necropsy of two affected siblings revealed multiple sites of haemorrhage, cytoplasmic periodic acid-Schiff and Luxol fast blue positive inclusions in neurons, and aggregates of foamy macrophages in visceral organs...
September 15, 2017: Avian Pathology: Journal of the W.V.P.A
https://www.readbyqxmd.com/read/28911001/whole-exome-analysis-of-a-li-fraumeni-family-trio-with-a-novel-tp53-prd-mutation-and-anticipation-profile
#19
Sara Franceschi, Laura Spugnesi, Paolo Aretini, Francesca Lessi, Rosa Scarpitta, Alvaro Galli, Caterina Congregati, Maria Adelaide Caligo, Chiara Maria Mazzanti
Li-Fraumeni syndrome is a clinically heterogeneous familial cancer predisposition syndrome with autosomal-dominant inheritance caused by heterozygous germline mutations in the TP53 gene. We here analyze the genetic background of a family with a 4-year-proband presented with a Li-Fraumeni tumor. The mother developed breast cancer at age 37 and the proband died at age 8. We performed Sanger sequencing and whole-exome sequencing on peripheral blood DNA from proband and relatives. Data analysis selected only high-quality score and depth reads, rare variants and protein impact involving missense, non-sense, frameshift and splice disrupt mutations...
September 1, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28905883/acceptable-applications-of-preimplantation-genetic-diagnosis-pgd-among-israeli-pgd-users
#20
Shachar Zuckerman, David A Zeevi, Sigal Gooldin, Gheona Altarescu
The use of PGD technology to select against genetic disorders and traits is increasing. Although PGD may eliminate some of the obstacles related to conservative options of prenatal diagnosis, it can raise personal, social and moral questions. Ethical issues concerning the justified uses of PGD are a subject of ongoing debate among medical and bioethical communities. Although attitudes toward the acceptable uses of PGD were evaluated among population groups worldwide, bioethics councils were criticized for ignoring public perspectives...
October 2017: European Journal of Human Genetics: EJHG
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