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https://www.readbyqxmd.com/read/28921755/homozygous-mutation-in-the-nphp3-gene-causing-foetal-nephronophthisis
#1
Uzma Abdullah, Muhammad Farooq, Ambrin Fatima, Wasima Tauseef, Yasra Sarwar, Mmh Nuri, Niels Tommerup, Shahid M Baig
We present a case of a foetal sonographic finding of hyper-echogenic kidneys, which led to a strategic series of genetic tests and identified a homozygous mutation (c.424C > T, p. R142*) in the NPHP3 gene. Our study provides a rare presentation of NPHP3-related ciliopathy and adds to the mutation spectrum of the gene, being the first one from Pakistani population. With a thorough literature review, it also advocates for molecular assessment of ciliopathies to improve risk estimate for future pregnancies, and identify predisposed asymptomatic carriers...
October 2017: Nephrology
https://www.readbyqxmd.com/read/28846093/super-resolution-microscopy-reveals-that-disruption-of-ciliary-transition-zone-architecture-causes-joubert%C3%A2-syndrome
#2
Xiaoyu Shi, Galo Garcia Iii, Julie C Van De Weghe, Ryan McGorty, Gregory J Pazour, Dan Doherty, Bo Huang, Jeremy F Reiter
Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the transition zone, a domain near the base of the cilium that controls the protein composition of its membrane. We defined the three-dimensional arrangement of key proteins in the transition zone using two-colour stochastic optical reconstruction microscopy (STORM). NPHP and MKS complex components form nested rings comprised of nine-fold doublets. JBTS-associated mutations in RPGRIP1L or TCTN2 displace certain transition-zone proteins...
August 28, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28826940/distinct-oxylipin-alterations-in-diverse-models-of-cystic-kidney-diseases
#3
Md Monirujjaman, Jessay G Devassy, Tamio Yamaguchi, Nikhil Sidhu, Masanori Kugita, Melissa Gabbs, Shizuko Nagao, Jing Zhou, Amir Ravandi, Harold M Aukema
Cystic kidney diseases are characterized by multiple renal cysts and are the leading cause of inherited renal disease. Oxylipins are bioactive lipids derived from fatty acids formed via cyclooxygenase, lipoxygenase and cytochrome P450 activity, and are important regulators of renal health and disease. Oxylipins are altered in nephronophthisis, a type of cystic kidney disease. To further investigate and to determine whether other cystic renal diseases share these abnormalities, a targeted lipidomic analysis of renal oxylipins was performed in orthologous models of autosomal dominant polycystic kidney disease 1 (Mx1Cre(+)Pkd1(flox/flox) mouse) and 2 (Pkd2(ws25/-) mouse), autosomal recessive polycystic kidney disease (PCK rat) and nephronophthisis (jck/jck mouse)...
August 18, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28736169/protein-interaction-analysis-provides-a-map-of-the-spatial-and-temporal-organization-of-the-ciliary-gating-zone
#4
Daisuke Takao, Liang Wang, Allison Boss, Kristen J Verhey
The motility and signaling functions of the primary cilium require a unique protein and lipid composition that is determined by gating mechanisms localized at the base of the cilium. Several protein complexes localize to the gating zone and may regulate ciliary protein composition; however, the mechanisms of ciliary gating and the dynamics of the gating components are largely unknown. Here, we used the BiFC (bimolecular fluorescence complementation) assay and report for the first time on the protein-protein interactions that occur between ciliary gating components and transiting cargoes during ciliary entry...
August 7, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28726664/expanded-phenotype-of-tmem67-gene-mutation-case-report
#5
T Tkemaladze, G Melikishvili, V Kherkheulidze, A Melikishvili, T Davitaia
Human ciliopathies are a class of multi-organ genetic disorders caused by defects of proteins expressed at the primary cilium, an organelle present on the cell surface of almost all cell types. Thus far, dozens of causative genes for ciliopathies have been identified and many of them are known to cause allelic disease. Of particular interest is the TMEM67 gene, encoding the transmembrane protein meckelin. The involvement of the mutant TMEM67 gene is known to be associated with a broad range of clinical presentations, namely Joubert syndrome 6 (JBTS6), nephronophthisis 11 (NPHP11), Bardet-Biedel syndrome (BBS), COACH syndrome, and lethal Meckel syndrome type 3 (MKS3)...
June 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28621010/diversity-of-renal-phenotypes-in-patients-with-wdr19-mutations-two-case-reports
#6
Takahisa Yoshikawa, Koichi Kamei, Hiroko Nagata, Ken Saida, Mai Sato, Masao Ogura, Shuichi Ito, Osamu Miyazaki, Maki Urushihara, Shuji Kondo, Noriko Sugawara, Kiyonobu Ishizuka, Yuko Hamasaki, Seiichiro Shishido, Naoya Morisada, Kazumoto Iijima, Michio Nagata, Takako Yoshioka, Kentaro Ogata, Kenji Ishikura
WDR19 has been reported as a causative gene of nephronophthisis-related ciliopathies. Patients with WDR19 mutations can show various extrarenal manifestations such as skeletal disorders, Caroli disease, and retinal dystrophy, and typically display nephronophthisis as a renal phenotype. However, there is limited information on the renal phenotypes of patients with WDR19 mutations. We report two Japanese infants with Sensenbrenner syndrome caused by WDR19 mutations who demonstrated different features in renal ultrasound and histopathological results, despite several common extrarenal manifestations...
July 2017: Nephrology
https://www.readbyqxmd.com/read/28618971/inversin-correlates-with-the-malignant-phenotype-of-non-small-cell-lung-cancer-and-promotes-the-invasiveness-of-lung-cancer-cells
#7
Gui-Yang Jiang, Yong Zhang, Xiu-Peng Zhang, Xu-Yong Lin, Juan-Han Yu, En-Hua Wang
Inversin, encoded by NPHP2, is one of the 10 NPHP proteins known to be involved in nephronophthisis (an autosomal recessive cystic kidney). Although the previous reports showed that inversin played an important role in embryonic development and renal diseases, its function in cancer was not revealed clearly so far. As measured by immunohistochemical staining, inversin was highly expressed in the cytoplasm of lung cancer samples (63.4%, 161/254) compared with adjacent normal lung tissues (22.0%, 11/50, p < 0...
June 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28509138/juvenile-nephronophthisis-and-dysthyroidism-a-rare-association
#8
Fateme Shamekhi Amiri, Ariana Kariminejad
Nephronophthisis, an autosomal recessive kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of life. A 27-year-old male was presented with gait imbalance, sever pruritus since 10 days prior time of admission. In past medical history, he had bilateral cataract, torsional nystagmus, and bilateral optic nerve atrophy since 2 years of age. He was also mentioned history of multinodular goiter with dysfunctional thyroid state since 2 years before admission...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28448550/priority-target-conditions-for-algorithms-for-monitoring-children-s-growth-interdisciplinary-consensus
#9
Pauline Scherdel, Rachel Reynaud, Christine Pietrement, Jean-François Salaün, Marc Bellaïche, Michel Arnould, Bertrand Chevallier, Hugues Piloquet, Emmanuel Jobez, Jacques Cheymol, Emmanuelle Bichara, Barbara Heude, Martin Chalumeau
BACKGROUND: Growth monitoring of apparently healthy children aims at early detection of serious conditions through the use of both clinical expertise and algorithms that define abnormal growth. Optimization of growth monitoring requires standardization of the definition of abnormal growth, and the selection of the priority target conditions is a prerequisite of such standardization. OBJECTIVE: To obtain a consensus about the priority target conditions for algorithms monitoring children's growth...
2017: PloS One
https://www.readbyqxmd.com/read/28392475/a-familial-case-of-severe-infantile-nephronophthisis-explained-by-oligogenic-inheritance
#10
Valentin Penchev, Anelia Boueva, Kunka Kamenarova, Dimitar Roussinov, Reni Tzveova, Mariya Ivanova, Violeta Dimitrova, Ivo Kremensky, Vanio Mitev, Radka Kaneva, Olga Beltcheva
Renal cysts are common malformation during the prenatal and postnatal period and frequent cause of chronic kidney or ESRD. More than 70 genes have been shown to play role in their pathology. Part of them are responsible for the structure and function of the cilia, which assigns a large proportion of the renal cystic diseases in the ciliopathies. Another group of genes responsible for cystic kidneys encodes transcription factors with crucial role during organogenesis. We describe here a systematic approach for identifying the genetic cause(s) of an unusually severe form of renal cystic disease in a family with multiple affected siblings...
June 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28370817/behavioral-and-neuroanatomical-analyses-in-a-genetic-mouse-model-of-2q13-duplication
#11
Keiko Kishimoto, Jun Nomura, Jacob Ellegood, Keita Fukumoto, Jason P Lerch, Daniel Moreno-De-Luca, Thomas Bourgeron, Kota Tamada, Toru Takumi
Duplications of human chromosome 2q13 have been reported in patients with neurodevelopmental disorder including autism spectrum disorder. Nephronophthisis-1 (NPHP1) was identified as a causative gene in the minimal deletion on chromosome 2q13 for familial juvenile type 1 nephronophthisis and Joubert syndrome, an autosomal recessive neurodevelopmental disorder characterized by a cerebellar and brain stem malformation, hypotonia, developmental delay, ataxia, and sometimes associated with cognitive impairment...
May 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/28332779/intrafamilial-phenotypic-variability-in-a-polish-family-with-sensenbrenner-syndrome-and-biallelic-wdr35-mutations
#12
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43, WDR19, and IFT52 have been associated with CED. All known genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28273707/-diagnostic-approach-to-nephronophthisis
#13
(no author information available yet)
No abstract text is available yet for this article.
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28213931/successful-resumption-of-peritoneal-dialysis-following-living-donor-liver-transplantation-in-children-with-end-stage-renal-disease
#14
Hiroyuki Kanazawa, Akinari Fukuda, Mai Sato, Shingo Ishimori, Kengo Sasaki, Hajime Uchida, Takanobu Shigeta, Vidyadhar Padmakar Mali, Seisuke Sakamoto, Kenji Ishikura, Mureo Kasahara
Children with ESRD in need of RRT are commonly managed by PD due to difficulty with vascular access for HD and the relatively large extracorporeal blood volume required. Major abdominal surgery may result in injury to the peritoneum and consequent adhesion, thereby resulting in a reduction in the anatomical capacity and transport capability across the peritoneal membrane. Here, we report successful resumption of PD after LDLT in two pediatric patients. The causes of ESRD were PH1 and juvenile nephronophthisis, respectively...
May 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28157543/mutations-in-mapkbp1-cause-juvenile-or-late-onset-cilia-independent-nephronophthisis
#15
Maxence S Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne E C Mellgren, Sabine Leh, Albane Bizet, Daniela A Braun, Heon Y Gee, Flora Silbermann, Charline Henry, Pauline Krug, Christine Bole-Feysot, Patrick Nitschké, Dominique Joly, Philippe Nicoud, André Paget, Heidi Haugland, Damien Brackmann, Nayir Ahmet, Richard Sandford, Nurcan Cengiz, Per M Knappskog, Helge Boman, Bolan Linghu, Fan Yang, Edward J Oakeley, Pierre Saint Mézard, Andreas W Sailer, Stefan Johansson, Eyvind Rødahl, Sophie Saunier, Friedhelm Hildebrandt, Alexandre Benmerah
No abstract text is available yet for this article.
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28151755/renal-cystic-disease-and-associated-ciliopathies
#16
Karl O Kagan, Andreas Dufke, Ulrich Gembruch
PURPOSE OF REVIEW: To review disorders that are associated with renal cystic disease during prenatal life and to highlight the strong association between renal cystic disease and ciliopathies. RECENT FINDINGS: There are numerous causative genes for ciliopathies that can present with cystic kidney disease. In the group of single gene ciliopathies, autosomal dominant polycystic kidney disease is by far the most prevalent one. Other examples are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Joubert syndrome and related disorders as well as X-linked orofaciodigital syndrome type 1, respectively...
April 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28127172/orocraniofacial-findings-of-a-pediatric-patient-with-joubert-syndrome
#17
Mridula Goswami, Anju S Rajwar, Mahesh Verma
Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly. An obligatory hallmark feature associated with JS is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging...
October 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28124483/mutations-in-ttc21b-cause-different-phenotypes-in-two-childhood-cases-in-china
#18
Hongwen Zhang, Baige Su, Xiaoyu Liu, Huijie Xiao, Jie Ding, Yong Yao
AIM: The TTC21B gene is now known as causative of nephronophthisis-related ciliopathies (NPHP-RC). We reported two Chinese pediatric cases with end-stage renal disease and other phenotypes caused by the TTC21B gene mutations. METHODS: The clinical features of Chinese pediatric cases with NPHP-RC were summarized. Mutation analysis of the TTC21B gene was performed using next-generation sequencing. RESULTS: The two cases both had nephrotic proteinuria, renal failure, hypertension and abnormal liver function (or hepatic fibrosis)...
January 26, 2017: Nephrology
https://www.readbyqxmd.com/read/28089251/mutations-in-mapkbp1-cause-juvenile-or-late-onset-cilia-independent-nephronophthisis
#19
Maxence S Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne E C Mellgren, Sabine Leh, Albane Bizet, Daniela A Braun, Heon Y Gee, Flora Silbermann, Charline Henry, Pauline Krug, Christine Bole-Feysot, Patrick Nitschké, Dominique Joly, Philippe Nicoud, André Paget, Heidi Haugland, Damien Brackmann, Nayir Ahmet, Richard Sandford, Nurcan Cengiz, Per M Knappskog, Helge Boman, Bolan Linghu, Fan Yang, Edward J Oakeley, Pierre Saint Mézard, Andreas W Sailer, Stefan Johansson, Eyvind Rødahl, Sophie Saunier, Friedhelm Hildebrandt, Alexandre Benmerah
Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at the primary cilium, NPH is classified as a ciliopathy. We identified mutations in a candidate gene in eight individuals from five families presenting late-onset NPH with massive renal fibrosis. This gene encodes MAPKBP1, a poorly characterized scaffolding protein for JNK signaling. Immunofluorescence analyses showed that MAPKBP1 is not present at the primary cilium and that fibroblasts from affected individuals did not display ciliogenesis defects, indicating that MAPKBP1 may represent a new family of NPHP not involved in cilia-associated functions...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28050464/senior-loken-syndrome
#20
Amarpreet Kaur, Shashi Kant Dhir, Geetika Goyal, Naveen Mittal, R K Goyal
Senior Loken Syndrome (SLS) is a rare genetic disorder having juvenile nephronophthisis and retinal degeneration progressing to blindness and end stage renal disease. The present case report is about two sisters who presented with decreased visual acuity and end stage renal disease. Both had decreased vision, pallor, deranged renal function test and chronic malnutrition. Investigations revealed anaemia, uraemia, raised creatinine, low Glomerular Filteration Rate (GFR). Ophthalmology examination revealed nystagmus, retinal examination depicted pale optic disc and pigmentary changes in the retina...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
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