Article
Genetics & Heredity
Mutaz Amin, Cedric Vignal, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Rayan Abubaker, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz
Summary: Pontocerebellar hypoplasia type 10 (PCH10) is a rare neurodegenerative disease characterized by intellectual disability, microcephaly, and developmental delay. It is caused by a founder missense pathogenic variant in the CLP1 gene. This study identified cases of PCH10 in a non-Turkish family for the first time, highlighting the phenotypic expansion of the disease.
FRONTIERS IN GENETICS
(2022)
Review
Cell Biology
Konark Mukherjee, Leslie E. W. LaConte, Sarika Srivastava
Summary: Most human diseases result from tissue pathology caused by underlying disease processes. Successful therapeutic strategies can target specific molecular functions or halt the disease process. The complex etiology and pathogenesis of brain diseases impede the discovery of effective disease-modifying drugs. Valid animal models are critical for understanding the molecular basis of brain disorders. The MICPCH condition is caused by CASK gene mutations and studying these mutations in model organisms provides insights into the pathogenesis and molecular function of CASK. Caution must be exercised when interpreting data from genetically modified animal models of human diseases.
Article
Cell & Tissue Engineering
Ben N. Stansfield, Sampath Rangasamy, Keri Ramsey, May Khanna, Jared M. Churko
Summary: We generated iPSC lines from a PCH1B patient and a family matched control, which can be used as important tools to study the development of PCH1B.
STEM CELL RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Shereen G. Ghosh, Martin W. Breuss, Zinayida Schlachetzki, Guoliang Chai, Danica Ross, Valentina Stanley, F. Mujgan Sonmez, Haluk Topaloglu, Maha S. Zaki, Heba Hosny, Shaimaa Gad, Joseph G. Gleeson
Summary: HEAT repeats are flexible tandem repeat structural motifs found in a variety of eukaryotic proteins, serving as scaffolds at protein interaction sites. Loss of HEATR5B due to genetic mutations may be associated with pontocerebellar hypoplasia, characterized by neonatal seizures, severe intellectual disability, and motor delay.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Neurosciences
C. Priyanka, Rajeswaran Rangasami, Indrani Suresh
Summary: This article presents a prenatal case of pontine tegmental cap dysplasia (PTCD) to increase awareness of this rare condition and highlight the importance of early prenatal diagnosis.
Article
Genetics & Heredity
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova
Summary: Pathogenic variants in the ATAD3A gene lead to a diverse range of clinical presentations and severity. Four individuals from two families with compound heterozygous p.Leu77Val and exon 3-4 deletion in the ATAD3A gene were reported. The clinical picture and severity of ATAD3A-related disorders are consistent in patients sharing the same combinations of variants.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Clinical Neurology
Pinar Ozkan Kart, Senol Citli, Nihal Yildiz, Ali Cansu
Summary: This article discusses the relationship between mutations in the INPP4A gene and neurological disorders. Through whole-exome sequencing of a seven-year-old girl, it was found that she had pontocerebellar hypoplasia, resistant myoclonic epilepsy, axial hypotonia, microresponse, contractures in wrists and ankles, and growth retardation. Therefore, the researchers suggest that INPP4A mutations should be considered in patients with severely delayed psychomotor development, progressive microcephaly, resistant myoclonic epilepsy, and isolated cerebellum and pons involvement.
BRAIN & DEVELOPMENT
(2023)
Article
Pediatrics
Serap Bilge, Gulen Gul Mert, Ozlem Herguner, Duygu Ozcanyuz, Sevcan Tug Bozdogan, Omer Kaya, Cengiz Havali
Summary: This study presents the clinical and radiological manifestations of genetically diagnosed PCH patients. PCH is a rare neurodegenerative disease with heterogeneous features. PCH7 and PCH11 show gender-specific characteristics.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
Article
Biochemistry & Molecular Biology
Mohammad I. K. Hamad, Abdalrahim Jbara, Obada Rabaya, Petya Petrova, Solieman Daoud, Nesrine Melliti, Maurice Meseke, David Lutz, Elisabeth Petrasch-Parwez, Jan Claudius Schwitalla, Melanie D. Mark, Stefan Herlitze, Gebhard Reiss, Joachim Herz, Eckart Foerster
Summary: Reelin plays a crucial role in controlling early network activity by modulating GABA(B)R function, affecting the excitability of the cortical network.
JOURNAL OF NEUROCHEMISTRY
(2021)
Article
Neurosciences
Ran Zhao, Limin Zhang, Hong Lu
Summary: This study analyzed the clinical features and imaging findings of Pontocerebellar hypoplasia type 2D (PCH2D) caused by SEPSECS gene mutations. The results showed that most patients were severe early-onset, while a few were late-onset with milder symptoms. EOPs and LOPs shared some common clinical features and MRI findings, but also had their own characteristics.
Article
Clinical Neurology
Tiantian He, Huaqin Sun, Bocheng Xu, Haibo Qu, Xiaotang Cai, Hui Zhou, Yanyan Liu, Ziyuan Lin, Xuemei Zhang
Summary: In this study, the phenotype and genotype of a patient with global developmental delay were investigated, revealing two novel compound heterozygous variations in the CHMP1A gene that are associated with PCH8. This study expands our understanding of the clinical characteristics and genetic spectrum of PCH8.
FRONTIERS IN NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Ikuko Morisaki, Hiroshi Shiraishi, Hiroyuki Fujinami, Nobuyuki Shimizu, Takatoshi Hikida, Yuji Arai, Takashi Kobayashi, Reiko Hanada, Josef M. Penninger, Minoru Fujiki, Toshikatsu Hanada
Summary: CLP1, an RNA kinase, plays crucial roles in mRNA and tRNA metabolism, while R140H mutation in CLP1 leads to PCH10 pathology. The knock-in mutant mice with this mutation showed motor neuron loss and accumulation of RNA fragments, suggesting their involvement in the disease pathogenesis and progression.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Article
Agriculture, Dairy & Animal Science
Mathew D. Littlejohn, Nick Sneddon, Keren Dittmer, Mike Keehan, Melissa Stephen, Michaela Drogemueller, Dorian Garrick
Summary: Cerebellar hypoplasia is a neurological condition characterized by smaller or underdeveloped cerebellum. In this study, researchers identified a genetic mutation, specifically a frameshift-deletion of the RELN gene, as the cause of cerebellar hypoplasia in White Swiss Shepherd dogs. This finding will facilitate genotyping of dogs and improve breeding programs.
Article
Genetics & Heredity
Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Naomichi Matsumoto
Summary: Pontocerebellar hypoplasia (PCH) has 16 subgroups and can be caused by pathogenic variants in as many as 24 genes. PCH type 8 (PCH8) is a rare disorder characterized by severe developmental delay and brain abnormalities. CHMP1A gene variants have been found in PCH8 patients and impair the release of extracellular vesicles, affecting brain development. This study reports a new CHMP1A variant in a PCH8 patient and expands our knowledge of the clinical consequences associated with CHMP1A variants.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Mamiko Yamada, Hisato Suzuki, Hiroyuki Adachi, Atsuko Noguchi, Fuyuki Miya, Tsutomu Takahashi, Kenjiro Kosaki
Summary: Pontocerebellar hypoplasia (PCH) is a degenerative disease caused by multiple genes. This study reports two siblings with a fulminant neonatal course. Whole genome analysis revealed bi-allelic compound heterozygous variants in the SLC25A46 gene, which is essential for mitochondrial function. This study highlights the importance of genomic analysis in understanding the cause and providing accurate genetic counseling for PCH.
Article
Radiology, Nuclear Medicine & Medical Imaging
Sibel Kul, Sukru Oguz, Ilker Eyuboglu, Ozlem Komurcuoglu
DIAGNOSTIC AND INTERVENTIONAL RADIOLOGY
(2015)
Article
Pediatrics
Sevim Sahin, Ugur Yazar, Ali Cansu, Sibel Kul, Selcuk Kaya, Elif Bahat Ozdogan
INDIAN JOURNAL OF PEDIATRICS
(2015)
Letter
Radiology, Nuclear Medicine & Medical Imaging
Sibel Kul
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2015)
Article
Obstetrics & Gynecology
Mehmet Mutlu, Yakup Aslan, Sibel Kul, Gurdal Yilmaz
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2016)
Letter
Clinical Neurology
Sevim Sahin, Mehmet Kola, Ali Cansu, Sibel Kul, Halil Ibrahim Imamoglu
NEUROLOGICAL SCIENCES
(2016)
Article
Radiology, Nuclear Medicine & Medical Imaging
Sibel Kul, Sukru Oguz, Ilker Eyuboglu, Ozlem Komurcuoglu
DIAGNOSTIC AND INTERVENTIONAL RADIOLOGY
(2015)
Editorial Material
Pediatrics
Gulay Karaguzel, Sibel Kul, Mustafa Imamoglu, Aysenur Okten, Gungor Karaguzel
ARCHIVES OF DISEASE IN CHILDHOOD-EDUCATION AND PRACTICE EDITION
(2017)
Article
Radiology, Nuclear Medicine & Medical Imaging
Ali Kupeli, Sibel Kul, Ilker Eyuboglu, Sukru Oguz, Sevdegul Mungan
EUROPEAN JOURNAL OF RADIOLOGY
(2016)
Article
Clinical Neurology
Sevim Sahin, Ali Cansu, Ersan Kalay, Tuba Dincer, Sibel Kul, Ismet Mirac Cakir, Tulay Kamasak, Gulden Yorgancioglu Budak
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2016)
Article
Radiology, Nuclear Medicine & Medical Imaging
Sibel Kul, Yavuz Metin, Musa Kul, Nurgul Metin, Ilker Eyuboglu, Oguzhan Ozdemir
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2018)
Article
Emergency Medicine
Tuelay Kamasak, Sibel Kul, Mustafa Tusat, Nezir Ozgun, Ali Cansu
PEDIATRIC EMERGENCY CARE
(2018)
Article
Radiology, Nuclear Medicine & Medical Imaging
Sibel Kul, Ilker Eyuboglu, Aysegul Cansu, Etem Alhan
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2014)
Article
Radiology, Nuclear Medicine & Medical Imaging
Yavuz Metin, Nurgul Orhan Metin, Oguzhan Ozdemir, Filiz Tasci, Sibel Kul
Article
Surgery
Hatice Ayca Ata Korkmaz, Mirac Ismet Cakir, Eser Bulut, Sibel Kul
TURKISH JOURNAL OF SURGERY
(2019)
Article
Medicine, General & Internal
Aysegul Cansu, Emin Ayan, Sibel Kul, Ilker Eyuboglu, Sukru Oguz, Sevdegul Mungan
TURKISH JOURNAL OF MEDICAL SCIENCES
(2019)