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Wilhelm Stoffel, Ina Hammels, Bitta Jenke, Erika Binczek, Inga Schmidt-Soltau, Susanne Brodesser, Astrid Schauss, Julia Etich, Juliane Heilig, Frank Zaucke
Systemic loss of neutral sphingomyelinase (SMPD3) in mice leads to a novel form of systemic, juvenile hypoplasia (dwarfism). SMPD3 deficiency in mainly two growth regulating cell types contributes to the phenotype, in chondrocytes of skeletal growth zones to skeletal malformation and chondrodysplasia, and in hypothalamic neurosecretory neurons to systemic hypothalamus-pituitary-somatotropic hypoplasia. The unbiased smpd3-/- mouse mutant and derived smpd3-/- primary chondrocytes were instrumental in defining the enigmatic role underlying the systemic and cell autonomous role of SMPD3 in the Golgi compartment...
November 24, 2016: Cell Death & Disease
Inma Castilla-Cortázar, Julieta Rodríguez De Ita, Irene Martín-Estal, Fabiola Castorena, Gabriel A Aguirre, Rocío García de la Garza, Martha I Elizondo
Cartilage-hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15-year-old Mexican male initially diagnosed with Hirschsprung disease and posterior immunodeficiency, presents to our department for genetic and complementary evaluation for suspected CHH. Physical, biochemical, and genetic studies confirmed CHH together with IGF-1 deficiency...
November 14, 2016: American Journal of Medical Genetics. Part A
Sabitha Gokulraj, N Mohan, J Babususai Raj, S Yasmeen Ahamed, C J Stephen Arokiaraj, A Cicilia Subbulakshmi
Ellis-Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis-Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis-Van Creveld syndrome in siblings.
October 2016: Journal of Pharmacy & Bioallied Sciences
Xiaoliang Yuan, Haiqing Liu, Linfu Li, Hai Liu, Jianqiong Yang, Weimei Shi, Longhuo Wu
Endoplasmic reticulum (ER) has evolved an adaptive mechanism called unfolded protein response (UPR) at the initial stage to restore cellular homeostasis. The three ER transmembrane sensors, including IRE1α, PERK, and ATF6 are the key factors to decide cell fates. They exhibit both advantageous and disadvantageous effects, which depending on the micro-environmental state of cells. ER stress has been implicated in chondrocytes proliferation, differentiation, and hypertrophy through regulating transcriptional factors SOX9, Ihh, BMP-2, RUNX, and HIF1/2α...
October 25, 2016: Current Pharmaceutical Design
Makoto Hosoya, Sho Kanzaki, Satoko Wakabayashi, Kaoru Ogawa
Chondrodysplasia punctata (CP) is a systemic disorder of chondrogenesis. The most prominent features of patients with CP are abnormal faces characterized by a flat nose and short stature. CP patients show various types and levels of hearing loss. This disease is rare, and no successful tympanoplasties with hearing recovery have been reported. Here, we report on a CP case, in which hearing recovery was successfully treated with tympanoplasty.
September 22, 2016: Auris, Nasus, Larynx
Angela L Duker, Tim Niiler, Grant Eldridge, Nga H Brereton, Nancy E Braverman, Michael B Bober
Rhizomelic chondrodysplasia punctata (RCDP) is a class of peroxisomal disorders characterized by defective plasmalogen biosynthesis. There are multiple recognized types of RCDP, all of which have autosomal recessive inheritance, and their associated genes are known: RCDP type 1 with PEX7, RCDP type 2 with GNPAT, RCDP type 3 with AGPS, RCDP type 4 with FAR1, and RCDP type 5 with PEX5. Among other medical/developmental issues, plasmalogen deficiency has a direct effect on bone growth and results in postnatal growth failure, the severity of which corresponds to the degree of plasmalogen deficiency...
September 12, 2016: American Journal of Medical Genetics. Part A
Catherine Le Stunff, Francoise Tilotta, Jérémy Sadoine, Dominique Le Denmat, Claire Briet, Emmanuelle Motte, Eric Clauser, Pierre Bougnères, Catherine Chaussain, Caroline Silve
In humans, activating mutations in the PRKAR1A gene cause acrodysostosis 1 (ACRDYS1). These mutations result in a reduction in PKA activation caused by an impaired ability of cAMP to dissociate mutant PRKAR1A from catalytic PKA subunits. Two striking features of this rare developmental disease are renal resistance to PTH and chondrodysplasia resulting from the constitutive inhibition of PTHR1/Gsa/AC/cAMP/PKA signaling. We developed a knock-in of the recurrent ACRDYS1 R368X PRKAR1A mutation in the mouse. No litters were obtained from [R368X]/[+] females (thus no homozygous [R368X]/[R368X] mice)...
September 2, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Jonas Donner, Maria Kaukonen, Heidi Anderson, Fredrik Möller, Kaisa Kyöstilä, Satu Sankari, Marjo Hytönen, Urs Giger, Hannes Lohi
BACKGROUND: The growing number of identified genetic disease risk variants across dog breeds challenges the current state-of-the-art of population screening, veterinary molecular diagnostics, and genetic counseling. Multiplex screening of such variants is now technologically feasible, but its practical potential as a supportive tool for canine breeding, disease diagnostics, pet care, and genetics research is still unexplored. RESULTS: To demonstrate the utility of comprehensive genetic panel screening, we tested nearly 7000 dogs representing around 230 breeds for 93 disease-associated variants using a custom-designed genotyping microarray (the MyDogDNA® panel test)...
2016: PloS One
Katarzyna Gawron
The endoplasmic reticulum is primarily recognized as the site of synthesis and folding of secreted, membrane-bound, and some organelle-targeted proteins. An imbalance between the load of unfolded proteins and the processing capacity in endoplasmic reticulum leads to the accumulation of unfolded or misfolded proteins and endoplasmic reticulum stress, which is a hallmark of a number of storage diseases, including neurodegenerative diseases, a number of metabolic diseases, and cancer. Moreover, its contribution as a novel mechanistic paradigm in genetic skeletal diseases associated with abnormalities of the growth plates and dwarfism is considered...
August 15, 2016: Cell Stress & Chaperones
Shinji Higuchi, Masaki Takagi, Satoshi Shimomura, Gen Nishimura, Yukihiro Hasegawa
No abstract text is available yet for this article.
July 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
Sara Ota, Zi-Qiang Zhou, Megan P Romero, Guang Yang, Peter J Hurlin
Mutations that cause increased and/or inappropriate activation of FGFR3 are responsible for a collection of short-limbed chondrodysplasias. These mutations can alter receptor trafficking and enhance receptor stability, leading to increased receptor accumulation and activity. Here we show that wildtype and mutant activated forms of FGFR3 increase expression of the cytoplasmic deacetylase HDAC6 (Histone Deacetylase 6) and that FGFR3 accumulation is compromised in cells lacking HDAC6 or following treatment of fibroblasts or chondrocytes with small molecule inhibitors of HDAC6...
August 9, 2016: Human Molecular Genetics
Sheela Nampoothiri, Eduardo Fernández-Rebollo, Dhanya Yesodharan, Thomas J Gardella, Eric T Rush, Craig B Langman, Harald Jüppner
CONTEXT: Jansen's metaphyseal chondrodysplasia (JMC) is a rare skeletal dysplasia characterized by abnormal endochondral bone formation and typically severe hypercalcemia despite normal/low levels of PTH. Five different heterozygous activating PTH/PTHrP receptor (PTH1R) mutations that change one of three different amino acid residues are known to cause JMC. OBJECTIVES: Establishing the diagnosis of JMC during infancy or early childhood can be challenging, especially in the absence of family history and/or overt hypercalcemia...
November 2016: Journal of Clinical Endocrinology and Metabolism
Suresh Beena, Lata Murlidhar, Suresh Seshadri, Sujatha Jagadeesh, Indrani Suresh
No abstract text is available yet for this article.
June 28, 2016: Journal of Maternal-fetal & Neonatal Medicine
Yashwant Mahale, Vikram V Kadu, Amit Chaudhari
INTRODUCTION: Rhizomelic chondrodysplasia punctata (RCDP) is a very rare disease. It impairs the normal development of many parts of the body. The features of this disorder include bony abnormalities, severe mental retardation, joint contractures, cataract and recurrent respiratory infections and breathing problems. Seizures and Distinctive facial features including prominent forehead, depressed nasal bridge and small nose is also associated with this pathology. Being rare, this is very difficult to diagnose when presented at OPD...
July 2015: Journal of Orthopaedic Case Reports
Jørgen S Agerholm, Fiona Menzi, Fintan J McEvoy, Vidhya Jagannathan, Cord Drögemüller
BACKGROUND: Lethal chondrodysplasia (bulldog syndrome) is a well-known congenital syndrome in cattle and occurs sporadically in many breeds. In 2015, it was noticed that about 12% of the offspring of the phenotypically normal Danish Holstein sire VH Cadiz Captivo showed chondrodysplasia resembling previously reported bulldog calves. Pedigree analysis of affected calves did not display obvious inbreeding to a common ancestor, suggesting the causative allele was not a rare recessive. The normal phenotype of the sire suggested a dominant inheritance with incomplete penetrance or a mosaic mutation...
2016: BMC Veterinary Research
Yoshitomo Yasui, Miyuki Kohno, Syouichi Nishida, Tsubasa Shironomae, Miwa Satomi, Tsuyoshi Kuwahara, Sadayoshi Takahashi, Yo Niida
Cartilage-hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage-hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA-processing complex gene identified compound heterozygous mutations consisted with previously reported mutations; n.-14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis...
June 8, 2016: Congenital Anomalies
Toshimi Michigami
Hypoparathyroidism in a broad sense is caused by a parathyroid hormone (PTH) deficiency or resistance, leading to hypocalcemia and hyperphosphatemia. PTH deficiency can be result from destruction or hypoplasia/agenesis of the parathyroid gland, or the impaired synthesis or secretion of PTH. On the other hand, PTH resistance is based on the disrupted transduction of its signaling and includes pseudohypoparathyroidism, Blomstrand lethal chondrodysplasia and acrodysostosis. There has been a substantial progress in the identification of the pathogenesis for the inherited hypoparathyroidism, and genetic tests for diagnosis are considered when necessary...
June 2016: Clinical Calcium
A Peter Hall, T Mitchard, M G Rolf, J Stewart, P Duffy
Epiphyseal growth plate dysplasia (chondrodysplasia) might be considered as the pathognomonic feature of antiangiogenic treatment in preclinical species as it is reliably and dose-responsively induced in rodents and monkeys with vascular endothelial growth factor receptor (VEGFR) inhibitors, fibroblast growth factor (FGF) receptor inhibitors, matrix metalloproteinase inhibitors, and vascular targeting agents. Here we report epiphyseal growth plate dysplasia in juvenile rabbits treated with an oral spleen tyrosine kinase inhibitor induced by off-target antiangiogenic inhibition of VEGF and FGF family kinase receptors...
August 2016: Toxicologic Pathology
Junko Shimomura-Kuroki, Muhammad Farooq, Tsuneo Sekimoto, Norio Amizuka, Yutaka Shimomura
Parathyroid hormone and parathyroid hormone-related peptide (PTHrP), and its receptor (PTH1R) play an important role in differentiation of bone and cartilage in the developing stages. Constitutive dimers of PTH1R are believed to be dissociated by ligand binding, and monomeric PTH1R is capable of activating G protein. Jansen type metaphyseal chondrodysplasia is caused by missense mutations in PTH1R, which are constitutively active even without the presence of the ligands. However, the underlying pathomechanisms remained largely unknown...
May 9, 2016: Odontology
Véronique Lefebvre, Mona Dvir-Ginzberg
SOX9 is a pivotal transcription factor in developing and adult cartilage. Its gene is expressed from the multipotent skeletal progenitor cells and is active throughout chondrocyte differentiation. While it is repressed in hypertrophic chondrocytes in cartilage growth plates, it remains expressed throughout life in permanent chondrocytes of healthy articular cartilage. SOX9 is required for chondrogenesis: it secures chondrocyte lineage commitment, promotes cell survival, and transcriptionally activates the genes for many cartilage-specific structural components and regulatory factors...
April 29, 2016: Connective Tissue Research
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