Review
Medicine, General & Internal
Kuntharee Traisrisilp, Yuri Yanase, Srimeunwai Ake-sittipaisarn, Theera Tongsong
Summary: This study presents a case of Cri-du-Chat syndrome (CdCS) with fetal ultrasound findings and provides an analytical literature review on the topic. The study found that most CdCS fetuses showed ultrasound characteristics such as cerebellar hypoplasia, cardiac abnormalities, and hydrops fetalis. This study provides a valuable fetal sonographic pattern that may facilitate early diagnosis of CdCS.
Article
Genetics & Heredity
Cristina Bel-Fenellos, Chantal Biencinto-Lopez, Belen Saenz-Rico, Adolfo Hernandez, Ana Karen Sandoval-Talamantes, Jair Tenorio-Castano, Pablo Lapunzina, Julian Nevado
Summary: This study described the developmental profile of a cohort of children with 5p minus Syndrome in terms of biomedical, genetic, cognitive, and behavioral aspects. It was found that children with this syndrome have higher cognitive levels but lower communicative and motor levels. Language difficulties, especially expressive ones, influence the frequency and severity of behavioral problems. Additionally, a significant correlation was found between the size of the genetic material loss on chromosome 5p and cognitive level.
Article
Genetics & Heredity
Vanessa T. Almeida, Samar N. Chehimi, Yanca Gasparini, Amom M. Nascimento, Gleyson F. S. Carvalho, Marilia M. Montenegro, Evelin Aline Zanardo, Alexandre T. Dias, Nilson A. Assuncao, Chong A. Kim, Leslie D. Kulikowski
Summary: This case report describes a family with an atypical 5p deletion, showing phenotypic variations compared to typical 5p- syndrome. MLPA and genomic array techniques were used to determine the deletion breakpoints and revealed the preservation of the CTNND2 gene, which may explain the better communication skills observed in the patients.
MOLECULAR SYNDROMOLOGY
(2023)
Article
Psychiatry
Zhaonian Chen, Xiaojing Li, Xiangzheng Cui, Luwen Zhang, Qing Liu, Yanli Lu, Xiujuan Wang, Han Shi, Minli Ding, Yongfeng Yang, Wenqiang Li, Luxian Lv
Summary: This study investigates the association between CTNND2 gene and schizophrenia (SZ). Through case-control analysis, three SNPs (rs16901943, rs7733427, rs2168878) were found to be associated with SZ, and rs10058868 and rs2168878 were linked to symptoms of depression and excitement in SZ patients.
INTERNATIONAL JOURNAL OF PSYCHIATRY IN MEDICINE
(2023)
Article
Genetics & Heredity
Julian Nevado, Cristina Bel-Fenellos, Ana Karen Sandoval-Talamantes, Adolfo Hernandez, Chantal Biencinto-Lopez, Maria Luisa Martinez-Fernandez, Pilar Barruz, Fernando Santos-Simarro, Maria Angeles Mori-Alvarez, Elena Mansilla, Fe Amalia Garcia-Santiago, Isabel Valcorba, Belen Saenz-Rico, Maria Luisa Martinez-Frias, Pablo Lapunzina
Summary: Chromosome-5p minus syndrome, also known as Cri du Chat syndrome, is a neurodevelopmental disorder characterized by features such as global developmental delay, microcephaly, delayed speech, and a high-pitch voice resembling a cat's cry. This syndrome shows a wide phenotypic heterogeneity with specific characteristics. Research has identified significant clinical and molecular heterogeneity among individuals, as well as functional differences between males and females.
FRONTIERS IN GENETICS
(2021)
Article
Oncology
Petter Holland, Mari Wildhagen, Mette Istre, Olaug Marie Reiakvam, John Arne Dahl, Arne Soraas
Summary: This study provides a deep analysis of the epigenetics of Cri du chat syndrome, revealing distinct DNA methylation patterns in patients compared to controls. The study identifies DNA methylation changes in the gene promoters associated with symptoms of the syndrome, indicating potential epigenetic involvement in embryonic development.
CLINICAL EPIGENETICS
(2022)
Article
Oncology
Yan Nian, Xiaorong Li, Jingwen Ma, Ting Gao, Dan Liu
Summary: In this study, circ_0075960 was found to regulate the activity of the Wnt/8-catenin signaling pathway by targeting the miR-202-5p/CTNND1 axis, thereby contributing to the malignant development of endometrial carcinoma (EC).
JOURNAL OF GYNECOLOGIC ONCOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Seon Hye E. Park, Ashwinikumar Kulkarni, Genevieve Konopka
Summary: During cortical development, human basal radial glial cells (bRGCs) play a crucial role in self-renewal and neurogenesis. The expression of FOXP1 in bRGCs is associated with neurodevelopmental disorders (NDDs) and impacts cortical progenitor proliferation and differentiation. The loss of FOXP1 leads to a reduction in the number of bRGCs and subsequently a decrease in excitatory cortical neurons.
Article
Obstetrics & Gynecology
Jian-Ping He, Yuan Qian, Wei-Jia Liu, Jian Tang, Mao-Hua Qin, Sheng-Jun Luo, Jiang-Hou Hou, Meng-Xin Lv
Summary: This study characterized the genetic abnormalities and prenatal diagnosis indications in one fetus with Cri-du-Chat syndrome and concomitant 10 q24.2-q26.3 duplication. Adverse pregnancy history is an important indicator for prenatal diagnosis, and nuchal fold thickening is closely related to fetal abnormalities. Utilizing CNV-seq in combination with ultrasound can improve the diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital anomalies.
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
(2021)
Article
Clinical Neurology
Angelina Cistaro, Irene Giovanna Schiera, Piercarlo Fania, Fabio Tognon, Alexandra Liava, Cesare Danesino, Giovanni Albani, Andrea Guala, Alberto Vogrig, Natale Quartuccio
Summary: This study presents the first report on the genotype-phenotype patterns and PET findings in two disease-discordant monozygotic twins with Cri du Chat syndrome. One twin showed severe phenotype with significant hypometabolism in multiple brain regions, while the other twin presented a mild phenotype with hypometabolism only in specific areas. Future studies should investigate the factors contributing to phenotypic discordance in twins with CdcS.
Article
Multidisciplinary Sciences
Andras N. Spaan, Anna-Lena Neehus, Emmanuel Laplantine, Frederik Staels, Masato Ogishi, Yoann Seeleuthner, Franck Rapaport, Keenan A. Lacey, Erika Van Nieuwenhove, Maya Chrabieh, David Hum, Melanie Migaud, Araksya Izmiryan, Lazaro Lorenzo, Tatiana Kochetkov, Dani A. C. Heesterbeek, Bart W. Bardoel, Ashley L. DuMont, Kerry Dobbs, Solenne Chardonnet, Soren Heissel, Timour Baslan, Peng Zhang, Rui Yang, Dusan Bogunovic, Herman F. Wunderink, Pieter-Jan A. Haas, Henrik Molina, Griet Van Buggenhout, Stanislas Lyonnet, Luigi D. Notarangelo, Mikko R. J. Seppanen, Robert Weil, Gisela Seminario, Hector Gomez-Tello, Carine Wouters, Mehrnaz Mesdaghi, Mohammad Shahrooei, Xavier Bossuyt, Erdal Sag, Rezan Topaloglu, Seza Ozen, Helen L. Leavis, Maarten M. J. van Eijk, Liliana Bezrodnik, Lizbeth Blancas Galicia, Alain Hovnanian, Aude Nassif, Brigitte Bader-Meunier, Benedicte Neven, Isabelle Meyts, Rik Schrijvers, Anne Puel, Jacinta Bustamante, Ivona Aksentijevich, Daniel L. Kastner, Victor J. Torres, Stephanie Humblet-Baron, Adrian Liston, Laurent Abel, Bertrand Boisson, Jean-Laurent Casanova
Summary: This study reveals the link between partial deficiency of the OTULIN gene and cell-intrinsic immune disruption in clinical variability upon infection with Staphylococcus aureus.
Article
Environmental Sciences
Xiaoli Chen, Liyan Gu, Xia Chen, Jianping Xing, Chengxia Zhang
Summary: The study showed that miR-17-5p is upregulated in DN patients and high glucose-treated HMCs. Silencing miR-17-5p reduces apoptosis and fibrosis in HMCs. MiR-17-5p binds to KIF23 and negatively regulates its expression, impacting Wnt/beta-catenin signaling in HMCs.
ENVIRONMENTAL TOXICOLOGY
(2021)
Article
Genetics & Heredity
Fan Zhang, Naixuan Cheng, Yingchun Han, Congcong Zhang, Haibo Zhang
Summary: The study identified that miR-139-5p plays a significant role in osteogenic differentiation of VICs through the Wnt/beta-Catenin pathway, suggesting it as a potential therapeutic target for CAVD.
FRONTIERS IN GENETICS
(2021)
Article
Medicine, General & Internal
Mimori Fujimori, Hyo Kyozuka, Misa Sugeno, Toki Jin, Fumihiro Ito, Daisuke Suzuki, Tsutomu Ishii, Yasuhisa Nomura
Summary: Here we report a rare case of a tubo ovarian abscess in a woman with cri du chat syndrome, who recovered well after surgical treatment.
FUKUSHIMA JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Education & Educational Research
Emily M. Ford, Nicole J. Luymes, Paula C. Fletcher, Pamela J. Bryden
Summary: Cri du Chat Syndrome (CdCS) is a genetic disorder affecting physical, social, and cognitive abilities. A case study on an individual with CdCS found that practicing fundamental movement skills (FMS) is crucial for individuals with disabilities, but there are inconsistencies in FMS development levels for individuals with CdCS, which should be taken into account in future physical activity programs.