Article
Biochemistry & Molecular Biology
Shangzhi Dai, Huijun Wang, Zhimiao Lin
Summary: Becker's nevus is characterized by hyperpigmentation and hypertrichosis, and recent studies have shown that it is associated with postzygotic ACTB mutations. The majority of BN patients have recurrent mutations in ACTB, although some patients do not have these mutations, indicating genetic heterogeneity. Genotype-phenotype correlation analysis suggests that lesions located above the waistline and covering more than 1% BSA are more likely to be positive for ACTB mutations.
Article
Ophthalmology
Shirel Rossenwasser-Weiss, Naama Orenstein, Alon Zahavi, Nitza Goldenberg-Cohen
Summary: This study characterized a genetic mutation causing Stickler syndrome in a previously undiagnosed family. Clinical and genetic evaluation of five generations of the family identified specific clinical phenotypes and a deep intronic mutation in COL2A1. Results suggest the need for genetic testing for early diagnosis and genetic counseling for Stickler syndrome.
CURRENT EYE RESEARCH
(2021)
Article
Multidisciplinary Sciences
Till Joscha Demal, Tasja Scholz, Helke Schueler, Jakob Olfe, Anja Froehlich, Fabian Speth, Yskert von Kodolitsch, Thomas S. Mir, Hermann Reichenspurner, Christian Kubisch, Maja Hempel, Georg Rosenberger
Summary: This study reports novel gene mutations in four patients with a MASS-like phenotype, expanding the phenotypic spectrum of type II collagenopathies and suggesting an association between a MASS-like phenotype and various hereditary connective tissue disorders. Further research is needed to explore the pathomechanisms and genotype-phenotype correlations of identified COL2A1 variants.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Qianwen Zhang, Ruen Yao, Qun Li, Xin Li, Biyun Feng, Guoying Chang, Jian Wang, Xiumin Wang
Summary: This study reported a case of type II collagenopathies in a Chinese male, confirming a novel homozygous variant of the COL2A1 gene through genetic sequencing. This is the first case of type II collagenopathies inherited in an autosomal recessive manner in China and East Asia, and it is the first case worldwide resulting from serine substitution.
BMC MEDICAL GENOMICS
(2021)
Article
Plant Sciences
Wenzhen Cheng, Conghao Hong, Fang Zeng, Nan Liu, Hongbo Gao
Summary: Introns are noncoding sequences removed from pre-mRNAs to produce mature mRNAs. The 5' ends of introns mostly have a conserved sequence motif that can base-pair with the spliceosome. Interestingly, a small percentage of introns begin with GC, which can cause misannotation of genes. The study analyzed the sequences around the intron 5' splice site and revealed the selection process of the 5' splice site and its effects on splicing.
Review
Cell Biology
Avigail Beryozkin, Hamzah Aweidah, Roque Daniel Carrero Valenzuela, Myriam Berman, Oscar Iguzquiza, Frans P. M. Cremers, Muhammad Imran Khan, Anand Swaroop, Radgonde Amer, Samer Khateb, Tamar Ben-Yosef, Dror Sharon, Eyal Banin
Summary: Mutations in the RPGRIP1 gene lead to a spectrum of retinal diseases, with most patients showing early onset, visual impairment, and retinal degeneration. The majority of mutations are null mutations, while missense mutations tend to result in a milder disease presentation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Dermatology
Weilong Zhong, Linghan Hu, Xu Cao, Jiahui Zhao, Xianning Zhang, Mingyang Lee, Huijun Wang, Jie Zhang, Quan Chen, Cheng Feng, Lina Duo, Xiuli Wang, Li Tang, Zhimiao Lin, Yong Yang
Summary: The study identified new and recurrent variations in the TRPV3 gene in patients with Olmsted syndrome, finding that variations in specific regions of the gene significantly enhance channel function and lead to severe phenotypes, while other variations have milder effects.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Article
Genetics & Heredity
Soon-Il Choi, Se-Joon Woo, Baek-Lok Oh, Jinu Han, Hyun-Taek Lim, Byung-Joo Lee, Kwangsic Joo, Jun-Young Park, Ja-Hyun Jang, Min-Kyung So, Sang-Jin Kim
Summary: This study retrospectively analyzed the genetic characteristics and clinical features of Korean Stickler syndrome patients, identifying 21 types of gene variants with 12 novel variants. Splicing variants were closely associated with retinal detachment, and this is the first large-scale study of Koreans with Stickler syndrome, expanding the spectrum of genetic variations for the syndrome.
Article
Endocrinology & Metabolism
Peng Tang, Jun Zhang, Song Peng, Yapeng Wang, Haoyang Li, Ze Wang, Yao Zhang, Yiqiang Huang, Jing Xu, Dianzheng Zhang, Qiuli Liu, Luofu Wang, Weihua Lan, Jun Jiang
Summary: 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. This study analyzed 15 patients from three families and found that different phenotypes were caused by different CYP21A2 mutations. Gender and mutation type influence the phenotypes, and genetic analysis can aid in the diagnosis of atypical 21-hydroxylase deficiency patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Catarina I. I. Goncalves, Josianne N. N. Carrico, Omneya M. M. Omar, Ebtesam Abdalla, Manuel C. C. Lemos
Summary: HDR syndrome, caused by GATA3 gene mutations, is a rare autosomal dominant disorder characterized by hypoparathyroidism, deafness, and renal dysplasia. We report a case of an 11-year-old girl with HDR syndrome caused by a heterozygous mutation at the splice acceptor site of exon 5 of the GATA3 gene. Functional studies showed that this mutation led to abnormal splicing of GATA3 mRNA, resulting in the loss of a specific sequence from exon 5.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medical Laboratory Technology
Yali Pan, Meihuan Chen, YanHong Zhang, Min Zhang, Lingji Chen, Na Lin, Liangpu Xu, Hailong Huang
Summary: This study analyzed the phenotype and genotype of 2923 patients with alpha-thalassemia in Fujian province, and found rare alpha-thalassemia genotypes. The study also revealed the correlation between genotype and phenotype.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)
Article
Oncology
Yiou Wang, Yanyan Bian, Xi Chen, Wenwei Qian
Summary: Stickler syndrome is a connective tissue disorder caused by mutations in collagen genes. We report on a male patient with a COL2A1 mutation, presenting with hip abnormalities. Surgical treatment partially improved the patient's symptoms, but the uncorrected deformity may have contributed to unsatisfactory outcomes.
ANNALS OF TRANSLATIONAL MEDICINE
(2022)
Article
Geriatrics & Gerontology
Lihua Yu, Guoping Peng, Yuan Yuan, Min Tang, Ping Liu, Xiaoyan Liu, Jie Ni, Yi Li, Caihong Ji, Ziqi Fan, Wenli Zhu, Benyan Luo, Qing Ke
Summary: This study summarized the gene mutation spectrum of ATP1A3 associated with RDP and explored the correlation between ATP1A3 variants and RDP clinical phenotypes. The study found specific mutation hotspots in ATP1A3, common delays in diagnosis, and potential effective treatments.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Cell Biology
Xiao-Fang Wang, Hui Chen, Peng-Juan Huang, Zhuo-Kun Feng, Zi-Qi Hua, Xiang Feng, Fang Han, Xiao-Tao Xu, Ren-Juan Shen, Yang Li, Zi-Bing Jin, Huan-Yun Yu
Summary: This study identified multiple novel and known disease-causing mutations in patients with congenital nystagmus, expanding the mutational spectrum. The results showed that FRMD7 and GPR143 are mutation hotspots for CN, with a significant difference in mutation detection rates between different groups of patients.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Dentistry, Oral Surgery & Medicine
Cailing Jiang, Kang Yu, Yihan Shen, Feng Wang, Qinggang Dai, Yiqun Wu
Summary: The objective of this study was to investigate the associations between PAX9 mutations and clinical features of non-syndromic tooth agenesis patients. Through whole exome sequencing, mutations in PAX9 gene were identified in non-syndromic tooth agenesis patients, and conservation analysis and three-dimensional structure prediction were conducted to analyze the mutated proteins. The study found that PAX9 mutations were associated with non-syndromic tooth agenesis and caused functional impairments of the PAX9 protein.
CLINICAL ORAL INVESTIGATIONS
(2023)
Article
Genetics & Heredity
Quentin Hennocq, Thomas Bongibault, Matthieu Biziere, Ombline Delassus, Maxime Douillet, Valerie Cormier-Daire, Jeanne Amiel, Stanislas Lyonnet, Sandrine Marlin, Marlene Rio, Arnaud Picard, Roman Hossein Khonsari, Nicolas Garcelon
Summary: Researchers developed an automatic annotation model for facial anomalies research, which was successfully applied to classify TC syndrome patients using their photographs. This study is of great significance for the field of dysmorphology research.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Maryanne Caruana, Marieke J. Baars, Evy Bashiardes, Kalman Benke, Erik Bjorck, Andrei Codreanu, Elena de Moya Rubio, Julia Dumfarth, Arturo Evangelista, Maarten Groenink, Klaus Kallenbach, Marlies Kempers, Anna Keravnou, Bart Loeys, Laura Muino-Mosquera, Edit Nagy, Olivier Milleron, Stefano Nistri, Guglielmina Pepe, Jolien Roos-Hesselink, Zoltan Szabolcs, Gisela Teixido-Tura, Janneke Timmermans, Ingrid Van de Laar, Roland van Kimmenade, Aline Verstraeten, Yskert Von Kodolitsch, Julie De Backer, Guillaume Jondeau
Summary: This document provides a patient pathway that improves care for patients with heritable thoracic aortic diseases (HTAD). It recommends referral to an expert center for evaluation based on specific criteria and suggests using transthoracic echocardiography for aortic imaging, with additional magnetic resonance imaging or computed tomography if necessary. Genetic testing should be considered for those with a high suspicion of underlying genetic aortopathy. The implementation of these strategies can standardize the diagnostic work-up and follow-up of patients with suspected HTAD and their relatives.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Infectious Diseases
Maria Goretti Lopez-Ramos, Joan Vinent, Rob Aarnoutse, Angela Colbers, Eneritz Velasco-Arnaiz, Loreto Martorell, Lola Falcon-Neyra, Olaf Neth, Luis Prieto, Sara Guillen, Fernando Baquero-Artigao, Ana Mendez-Echevarria, David Gomez-Pastrana, Ana Belen Jimenez, Rebeca Lahoz, Jose Tomas Ramos-Amador, Antoni Soriano-Arandes, Begona Santiago, Rosa Farre, Claudia Fortuny, Dolors Soy, Antoni Noguera-Julian
Summary: In 2010, the WHO recommended increasing the daily doses of first-line anti-tuberculosis medicines in children. This study aimed to investigate the pharmacokinetics of a once-daily dose of isoniazid (INH) in infants under 6 months of age. The study found that the target adult levels were not reached in a few cases, but overall, the treatment was well tolerated and no major safety concerns were raised.
Article
Genetics & Heredity
Marion Aubert-Mucca, Caroline Janel, Valerie Porquet-Bordes, Olivier Patat, Renaud Touraine, Thomas Edouard, Caroline Michot, Aude Tessier, Valerie Cormier-Daire, Tania Attie-Bitach, Genevieve Baujat
Summary: The NADSYN1 gene encodes the NAD synthetase 1 enzyme, which is crucial for NAD biosynthesis and organ embryogenesis. Mutations in NADSYN1 results in a wide range of phenotypic abnormalities. This study reports three new cases, expanding the spectrum of NAD deficiency disorder.
Article
Genetics & Heredity
Elif Yilmaz-Gulec, Pauline Marzin, Celine Huber-Lequesne, Valerie Cormier-Daire
Summary: This study reported a unique case with widespread bone cysts involving long tubular bones, iliac bones, and tubular bones of hands and feet, but without D-2-hydroxyglutaric aciduria. A variant of IDH1 R132H was detected in the blood of this patient, expanding the phenotypes of IDH1/IDH2 related enchondromatosis.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Obstetrics & Gynecology
Florence Belva, Christophe Blockeel, Kathelijn Keymolen, Andrea Buysse, Maryse Bonduelle, Greta Verheyen, Mathieu Roelants, Herman Tournaye, Frederik Hes, Lisbet Van Landuyt
Summary: This study aimed to evaluate the health outcomes of children born after embryo vitrification compared to children born after fresh embryo transfer. The results showed that children born after embryo vitrification had higher birthweight, height, and head circumference than children born after fresh embryo transfer. However, there were no significant differences in growth and weight gain between the two groups during infancy and early childhood.
FERTILITY AND STERILITY
(2023)
Article
Orthopedics
Mathilde Gaume, Sarah El Yahiaouni, Marine De Tienda, Genevieve Baujat, Valerie Cormier-Daire, Valerie Dumaine, Stephanie Pannier, Georges Finidori, Zagorka Pejin
Summary: This study describes the experience and assessments of bone allografting procedures in a consecutive series of OI patients. The indications for surgery included correction of deformity, treatment of fractures, and non-union. The results showed that bone consolidation was achieved after an average of 3.3 months, and graft fusion after an average of 7.7 months. Bone allografting was found to be a reliable method of biological fixation, contributing to increased bone capital and functional outcome.
INTERNATIONAL ORTHOPAEDICS
(2023)
Article
Dentistry, Oral Surgery & Medicine
P. M. Yamaguti, M. de La Dure-molla, S. Monnot, Y. J. Cardozo-Amaya, G. Baujat, C. Michot, B. P. J. Fournier, M. C. Riou, E. C. C. Caldas Rosa, Y. Soares de Lima, P. A. C. dos Santos, G. Alcaraz, E. N. S. Guerra, L. C. Castro, S. F. de Oliveira, R. Pogue, A. Berdal, L. M. de Paula, J. F. Mazzeu, V. Cormier-Daire, A. C. Acevedo
Summary: Dentinogenesis imperfecta (DI) is a common oral manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 mutations. This study analyzed 81 OI patients in Brazil and France and identified 25 novel mutations. The research found that DI was more frequent in severe and moderate OI cases and was often associated with COL1A2 mutations.
JOURNAL OF DENTAL RESEARCH
(2023)
Article
Genetics & Heredity
Anne Morice, Maxime Taverne, Sophie Eche, Lucie Griffon, Brigitte Fauroux, Nicolas Leboulanger, Vincent Couloigner, Genevieve Baujat, Valerie Cormier-Daire, Arnaud Picard, Laurence Legeai-Mallet, Natacha Kadlub, Roman Hossein Khonsari
Summary: This study investigated the correlation between achondroplasia, a common chondrodysplasia, and obstructive sleep apnea syndrome. Through various methods including clinical observations, 2D cephalometric measurements, and 3D geometric morphometry analyses, it was found that as patients with achondroplasia age, the severity of their craniofacial features increases, particularly in the midface and mandible, which is closely related to the severity of obstructive sleep apnea syndrome.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Multidisciplinary Sciences
Kitty Sherwood, Joseph C. Ward, Ignacio Soriano, Lynn Martin, Archie Campbell, Raheleh Rahbari, Ioannis Kafetzopoulos, Duncan Sproul, Andrew Green, Julian R. Sampson, Alan Donaldson, Kai-Ren Ong, Karl Heinimann, Maartje Nielsen, Huw Thomas, Andrew Latchford, Claire Palles, Ian Tomlinson
Summary: DNA repair defects are the basis of many cancer syndromes. We tested whether de novo germline mutations (DNMs) are increased in families with germline defects in polymerase proofreading or base excision repair. We found that parents with specific mutations had significantly increased DNMs, but the phenotypic consequences appear unlikely.
NATURE COMMUNICATIONS
(2023)
Article
Clinical Neurology
Jana Dominguez-Carral, William Grant Ludlam, Mar Junyent Segarra, Montserrat Fornaguera Marti, Sol Balsells, Jordi Muchart, Dunja Cokoli Petrovic, Ivan Espinoza, Juan Dario Ortigoza-Escobar, Kirill A. Martemyanov
Summary: This study aims to develop a severity score for GNAO1-related disorders and investigate the correlation between underlying molecular mechanisms and clinical severity. The results show that there is a wide variability in symptom severity among patients, and the severity score is significantly correlated with disease mechanisms.
ANNALS OF NEUROLOGY
(2023)
Article
Genetics & Heredity
Alejandro Parra, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Esteban A. San-Martin, Cristina Silvan, Fernando Santos-Simarro, I SOGR, Julian Nevado, Jair Tenorio-Castano, Pablo Lapunzina
Summary: DDX3X is a multifunctional ATP-dependent RNA helicase involved in various biological processes and has been associated with a developmental disorder named intellectual developmental disorder. This disorder is characterized by intellectual disability, brain abnormalities, and behavioral problems. This study describes 34 new patients with DDX3X variants and reviews 200 previously reported patients, providing novel variants and a detailed characterization of the phenotype.
Article
Biochemistry & Molecular Biology
Monica Roldan, Gregorio Alexander Nolasco, Lluis Armengol, Marcos Frias, Marta Morell, Manel Garcia-Aragones, Florencia Epifani, Jordi Muchart, Maria Luisa Ramirez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Summary: The number of genes associated with neurodevelopmental conditions is increasing, and PPP2R1A gene variants have been linked to syndromic intellectual disability. We report a case of an individual with a rare variant in PPP2R1A, leading to pontocerebellar hypoplasia (PCH) and other neurological abnormalities. In-depth analysis confirmed the pathogenicity of the variant, expanding our understanding of PPP2R1A-related neurodevelopmental disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Correction
Multidisciplinary Sciences
Kitty Sherwood, Joseph C. Ward, Ignacio Soriano, Lynn Martin, Archie Campbell, Raheleh Rahbari, Ioannis Kafetzopoulos, Duncan Sproul, Andrew Green, Julian R. Sampson, Alan Donaldson, Kai-Ren Ong, Karl Heinimann, Maartje Nielsen, Huw Thomas, Andrew Latchford, Claire Palles, Ian Tomlinson
NATURE COMMUNICATIONS
(2023)
Article
Orthopedics
Isabel Parada-Avendano, Hector Salvador, Rocio G. Garcia, Loreto Martorell-Sampol, Cesar G. Fontecha, Ferran Torner-Rubies, Laura M. Perez-Lopez
Summary: This study aimed to increase awareness of the association between lateralized overgrowth (LO) and abdominal tumor in the pediatric orthopedic community and evaluate its incidence in their center. Retrospective analysis of data from 166 patients with Wilms tumors and hepatoblastomas showed an incidence of LO in relation to intra-abdominal tumors of 3%.
JOINT DISEASES AND RELATED SURGERY
(2023)