Article
Genetics & Heredity
Yu Liu, Ying Yang, Liming Chu, Shuai Ren, Ying Li, Aimin Gao, Jing Wen, Wanling Deng, Yan Lu, Lingyin Kong, Bo Liang, Xiaoshan Shao
Summary: This article presents a case of a Chinese boy with a rare interstitial deletion in the long arm of chromosome 20, containing the GNAS locus. The patient's clinical symptoms and treatment outcomes are described, providing valuable information for the diagnosis and treatment of similar cases.
FRONTIERS IN GENETICS
(2022)
Article
Psychology, Developmental
Inn-Chi Lee, Yu-Hsun Wang, Jeng-Yuan Chiou, James Cheng-Chung Wei
Summary: This research analyzed the prevalence of autism spectrum disorders in Taiwanese children and its association with perinatal risk factors. The study found significant associations between neonatal jaundice, hypoglycemia, intrauterine growth retardation, craniofacial anomalies, and autism spectrum disorders.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Clinical Neurology
Keit Men Wong, Wayne M. Jepsen, Stephanie Efthymiou, Vincenzo Salpietro, Meredith Sanchez-Castillo, Janice Yip, Yamna Kriouile, Susann Diegmann, Steffi Dreha-Kulaczewski, Janine Altmuller, Holger Thiele, Peter Nurnberg, Mehran Beiraghi Toosi, Javad Akhondian, Ehsan Ghayoor Karimiani, Hannah Hummel-Abmeier, Brenda Huppke, Henry Houlden, Jutta Gartner, Reza Maroofian, Peter Huppke
Summary: Mutations in the TAF8 gene cause a severe neurodevelopmental disorder characterized by progressive brain atrophy. Similar phenotypes have been associated with mutations in other subunits of the TFIID complex. These disorders may be related to the specific vulnerability of neuronal tissue to deregulation of gene expression.
Review
Gastroenterology & Hepatology
Achintya D. Singh, Prashant Singh, Naba Farooqui, Tor Strand, Vineet Ahuja, Govind K. Makharia
Summary: The study found that the prevalence of celiac disease was 11.2% for patients with all-cause short stature and 9.7% for patients with idiopathic short stature, with biopsy-confirmed celiac disease rates of 7.4% and 11.6%, respectively. Evaluating for celiac disease may be beneficial for all patients with short stature.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Article
Pediatrics
Aleksandra Szczawinska-Poplonyk, Natalia Poplonyk, Marek Niedziela, Anna Sowinska-Seidler, Pawel Sztromwasser, Aleksander Jamsheer, Monika Obara-Moszynska
Summary: Cardio-facio-cutaneous syndrome (CFCS) is a clinical disorder characterized by disruptions in the RAS/MAPK signaling pathway. This study reports a patient with CFCS who also showed immunodeficiency and growth hormone deficiency. Using whole genome sequencing, a novel pathogenic variant in the MAP2K1 gene was identified. Replacement immunoglobulin therapy and timely antibiotic prophylaxis were effective in the treatment of this patient.
FRONTIERS IN PEDIATRICS
(2022)
Article
Endocrinology & Metabolism
Federica Tonon, Gianluca Tornese, Fabiola Giudici, Francesca Nicolardi, Barbara Toffoli, Egidio Barbi, Bruno Fabris, Stella Bernardi
Summary: The study reveals an association between reduced ACE2 expression and growth retardation in children with short stature. ACE2 expression is inversely correlated with the risk of short stature and has moderate accuracy in predicting it.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Genetics & Heredity
Noor Almoosawy, Fawaz Albaghli, Haya H. Al-Balool, Hanan Fathi, Waleed A. Zakaria, Mariam Ayed, Hind Alsharhan
Summary: Interstitial deletions in chromosome 3q21 have been associated with various congenital anomalies and developmental delays. A male individual from Kuwait with a 5.438 Mb interstitial deletion of chromosome 3q21.1q21.3 was reported with previously unreported features, expanding the phenotype associated with this chromosomal abnormality. This report provides a comprehensive summary of the cytogenetics and clinical data of individuals with interstitial deletions involving 3q21.
Article
Psychiatry
Katherine S. F. Damme, Jadyn S. Park, Sebastian Walther, Teresa Vargas, Stewart A. Shankman, Vijay A. Mittal
Summary: This study found that early developmental motor delays are associated with psychotic-like experiences and depression symptoms, as well as familial risk. Adolescent motor signs showed unique patterns of relationships to symptoms and familial risk, suggesting the presence of distinct forms of psychopathology. Motor network connectivity was related to symptoms and familial risk.
SCHIZOPHRENIA BULLETIN
(2022)
Article
Clinical Neurology
Sarut Chaisrisawadisuk, Nithiwat Vatanavicharn, Inthira Khampalikit, Mark H. Moore
Summary: Multisuture craniosynostosis is usually caused by syndromes and gene mutations, but rarely by chromosome disorders. Management involves addressing abnormal head shape and increased intracranial pressure risks. Cranial reconstruction is crucial for correcting these issues.
CHILDS NERVOUS SYSTEM
(2023)
Article
Endocrinology & Metabolism
Umm-Kulthum Ismail Umlai, Basma Haris, Khalid Hussain, Puthen Veettil Jithesh
Summary: In this study, we described a sporadic case of a pure, tandem, interstitial chromosome 4q duplication and identified potential dosage sensitive genes associated with major phenotypes. This case adds to the existing cases of 4q tandem duplications and highlights the importance of analyzing pure duplications in defining phenotype-gene relationships and understanding the function of chromosomal regions.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Dentistry, Oral Surgery & Medicine
W. Awotoye, C. Comnick, C. Pendleton, E. Zeng, A. Alade, P. A. Mossey, L. J. J. Gowans, M. A. Eshete, W. L. Adeyemo, T. Naicker, C. Adeleke, T. Busch, M. Li, A. Petrin, J. Olotu, M. Hassan, J. Pape, S. E. Miller, P. Donkor, D. Anand, S. A. Lachke, M. L. Marazita, A. A. Adeyemo, J. C. Murray, D. Albokhari, N. Sobreira, A. Butali
Summary: Through genome-wide gene x sex interaction study in a sub-Saharan African population with orofacial clefts, a novel risk locus on chromosome 8p22 with sex-specific effects was identified. The genetic variant at this locus showed different impacts on the risk of cleft lip with or without cleft palate between males and females. The locus contains genes related to craniofacial development and rare coding mutations, supporting its role in the genetic etiology of nonsyndromic orofacial clefts.
JOURNAL OF DENTAL RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Marie-Claude Beauchamp, Alexia Boucher, Yanchen Dong, Rachel Aber, Loydie A. Jerome-Majewska
Summary: This study demonstrates that craniofacial malformations and death in Eftud2(ncc-/-) embryos are caused by hyperactivation of the P53 pathway. Treatment with pifithrin-alpha partially improves craniofacial development, while Trp53 homozygous mutation reduces neural tube apoptosis and P53-target activity. However, the brain and craniofacial development remain unaffected in embryos with both Eftud2 and Trp53 mutations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Public, Environmental & Occupational Health
Anita Fekonja, Andrej Cretnik
Summary: Hypodontia has a significant impact on dentofacial features, including retruded lips, tooth position, and facial convexity. The severity of the impact is related to the number of missing teeth, with 5 or more congenitally missing teeth having a greater effect on facial aesthetics.
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Endocrinology & Metabolism
Reena Perchard, Philip George Murray, Peter Ellis Clayton
Summary: The evaluation of short children involves determining whether growth parameters are abnormal and conducting system and hormonal tests, as well as more targeted testing. Genetic analysis may be necessary for children whose diagnosis remains unclear. New genetic causes for short stature are continuously being discovered, expanding the clinical spectrum for known genes. The establishment of an international repository for short stature conditions is recommended for dissemination of knowledge and defining clinical spectrum.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Oncology
Rami Khalil, Anthony Kassab, Georges Costa, Fady Gh Haddad, Sami Richa, Joseph Kattan
Summary: This study evaluated the safety profile of immune checkpoint inhibitors (ICIs) in terms of neuropsychiatric adverse events (NPAEs). The results showed that ICI may be responsible for motor retardation and increased tension, with age and baseline performance status being the main risk factors.
JOURNAL OF CANCER RESEARCH AND THERAPEUTICS
(2022)