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
Ophthalmology
Philipp L. Mueller, Martin Gliem, Myra McGuinnes, Johannes Birtel, Frank G. Holz, Peter Charbel Issa
Summary: Most patients with ABCA4-related retinopathy had qAF levels above the age-related control group, with better discrimination in younger patients. Reduced discrimination based on qAF measures was associated with mild disease, more advanced disease with dark flecks, or older age due to age-related increase in qAF and a ceiling effect in patients.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2021)
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
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
Cardiac & Cardiovascular Systems
Jonas W. Bartstra, Sara Risseeuw, Pim A. de Jong, Bram van Os, Lianne Kalsbeek, Chris Mol, Annette F. Baas, Shana Verschuere, Olivier Vanakker, Ralph J. Florijn, Jeroen Hendrikse, Willem Mali, Saskia Imhof, Jeannette Ossewaarde-van Norel, Redmer van Leeuwen, Wilko Spiering
Summary: The study revealed that PXE patients with a mixed genotype showed less severe arterial and ophthalmological phenotypes compared to patients with two truncating variants in the ABCC6 gene. Further research into environmental and genetic modifiers may help explain the unexplained phenotypic variability.
Review
Biochemistry & Molecular Biology
Mathilde C. S. C. Vermeer, Daniela Andrei, Luisa Marsili, J. Peter van Tintelen, Herman H. W. Sillje, Maarten P. van den Berg, Peter van der Meer, Maria C. Bolling
Summary: Genetic variants in genes encoding cell-cell connecting proteins may lead to cardiocutaneous syndrome, characterized by cardiac and skin phenotypes. The correlation between genotype and phenotype is poorly understood, and further functional investigation is needed to improve our understanding.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Steven K. Brennan, Thomas W. Ferkol, Stephanie D. Davis
Summary: PCD is a rare inherited condition affecting motile cilia and leading to organ laterality defects, recurrent infections, bronchiectasis, and severe lung disease. Research has shown variability in clinical presentations and relationships between genotype and phenotype. Advancements in genetic testing continue to redefine these relationships and uncover previously unrecognized milder forms of the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Liyan Wu, Wei Zhang, Yanmeng Li, Donghu Zhou, Bei Zhang, Anjian Xu, Zhen Wu, Lina Wu, Shuxiang Li, Xiaoming Wang, Xinyan Zhao, Qianyi Wang, Min Li, Yu Wang, Hong You, Jian Huang, Xiaojuan Ou, Jidong Jia
Summary: This study is the first comprehensive analysis of the gene variant spectrum and phenotypic aspects of non-HFE HH in China, providing useful insights for the identification, diagnosis, and management of HH in China.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Review
Genetics & Heredity
Yu Fan, Yuming Xu, Changhe Shi
Summary: GGC repeat expansion in NOTCH2NLC is the most common causative factor in neuronal intranuclear inclusion disease in Asians. This expansion has been identified in various other diseases as well, suggesting a link with clinical phenotype.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Hematology
Dominique P. M. S. M. Maas, Ferdows Atiq, Nicole M. A. Blijlevens, Paul P. T. Brons, Sandy Krouwel, Britta A. P. Laros-van Gorkom, Frank W. G. Leebeek, Laurens Nieuwenhuizen, Selene C. M. Schoormans, Annet Simons, Danielle Meijer, Waander L. van Heerde, Saskia E. M. Schols
Summary: This study reveals the clinical and laboratory characteristics of genetically confirmed VWD type 2M patients, showing that they have a relatively mild clinical phenotype, except for bleeding after surgery and delivery. Laboratory phenotype varies and depends on the underlying genetic variant. The addition of genotyping to the current phenotypic characterization may improve diagnosis and classification of VWD.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Cell Biology
Thomas Quinaux, Aurelia Bertholet-Thomas, Aude Servais, Olivia Boyer, Isabelle Vrillon, Julien Hogan, Sandrine Lemoine, Segolene Gaillard, Candide Alioli, Sophie Vasseur, Cecile Acquaviva, Olivier Peyruchaud, Irma Machuca-Gayet, Justine Bacchetta
Summary: This study investigated the impact of CTNS mutations and cysteamine therapy on human osteoclasts, as well as conducted a genotype-phenotype analysis related to osteoclastic differentiation. The results showed that patients with residual cystinosin activity generated significantly fewer osteoclasts, and cysteamine exerted an inhibitory effect on osteoclastic differentiation at high doses across all groups. The study highlights the link between genotype and osteoclastic differentiation, as well as the significant impact of cysteamine therapy on this process in humans.
Article
Virology
Luiz V. L. Moreira, Andreza P. Malheiros, Kemere M. Barbosa, Pedro E. B. Freitas, Andrea L. Silva, Ana C. R. Cruz, Heloisa M. Nunes, Andre A. C. das Chagas, Alex J. S. de Souza
Summary: This study retrospectively evaluated the serological and molecular prevalence of HAV infection in patients with acute hepatitis in the Brazilian Eastern Amazon. The results showed that males and children under 10 years old are at a higher risk of HAV infection. Genotyping revealed that HAV subgenotype IA was the most common.
JOURNAL OF MEDICAL VIROLOGY
(2022)
Article
Clinical Neurology
Tyler Rehbein, Tong Tong Wu, Simona Treidler, Davide Pareyson, Richard Lewis, Sabrina W. Yum, Brett A. McCray, Sindhu Ramchandren, Joshua Burns, Jun Li, Richard S. Finkel, Steven S. Scherer, Stephan Zuchner, Michael E. Shy, Mary M. Reilly, David N. Herrmann
Summary: Recessive SH3TC2 variants cause CMT4C, a disease with variable clinical characteristics. Longitudinal analysis of 56 patients showed that CMTES and CMTES-R scores were moderately responsive to change over 3 years, indicating their usefulness in assessing disease progression.
Article
Genetics & Heredity
Nianyi Zhang, Xiaofang Wang, Zengqi Tang, Xiaonan Qiu, Zhixuan Guo, Danqi Huang, Hui Xiong, Qing Guo
Summary: This study found that female TSC patients are more likely to develop renal angiomyolipoma than male patients; missense mutation of TSC1 leads to a higher risk of renal angiomyolipoma, whereas frameshift mutation shows a reduced risk; patients with TSC2 mutations in the transcription activation domain 1 coding genes have an increased risk of renal angiomyolipoma.
FRONTIERS IN GENETICS
(2021)
Article
Gastroenterology & Hepatology
Li Wang, Yi-Ling Qiu, Hong-Mei Xu, Jing Zhu, Shuang-Jie Li, Wen-Xian OuYang, Yong-Feng Yang, Yi Lu, Xin-Bao Xie, Qing-He Xing, Jian-She Wang
Summary: The phenotype of MYO5B deficiency is associated with MYO5B genotypes, particularly null variants or affected domains. The severity of intestinal manifestation and cholestasis in FIC patients is correlated with specific variants of the MYO5B gene. Missense/in-frame variants affecting non-motor regions and IQ motifs in MYO5B are more common in FIC patients compared to MVID patients.
LIVER INTERNATIONAL
(2022)
Review
Endocrinology & Metabolism
Zeynep Siklar, Tugba Kontbay, Kevin Colclough, Kashyap A. Patel, Merih Berberoglu
Summary: The TRMT10A gene codes for tRNA methyltransferase, and loss of function mutations cause a syndrome featuring intellectual disability, microcephaly, short stature, and diabetes. The patient described in this study displayed these typical clinical features, as well as unusual glucose metabolism impairment, growth hormone deficiency, and primary ovarian failure. Genetic testing revealed a homozygous p.Arg127* mutation in the TRMT10A gene. This study highlights the importance of testing for all known subtypes of monogenic diabetes in patients with slow onset diabetes and additional organ features.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Aubin Garcia, Marie Legendre, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi, Sophie Christin-Maitre
Summary: This case report describes a 46,XY Difference of Sexual Development (DSD) individual with a female phenotype, primary amenorrhea, facial dysmorphia and mental retardation. Gene sequencing revealed two heterozygous loss-of-function mutations in the HSD17B3 enzyme. Additionally, microarray analysis identified a 37Mb segmental 3p duplication and a recurrent 16p13.11 microduplication. The HSD17B3 mutations were identified only in adulthood, and the patient's severe mental retardation and facial dysmorphia were due to genetic abnormalities different from the ones involved in her DSD.
ANNALES D ENDOCRINOLOGIE
(2023)
Article
Dentistry, Oral Surgery & Medicine
Eloise Giabicani, Aurelie Pham, Celine Selenou, Marie-Laure Sobrier, Caroline Andrique, Julie Lesieur, Agnes Linglart, Anne Poliard, Catherine Chaussain, Irene Netchine
Summary: This study demonstrates the potential of dental pulp stem cells in modeling imprinting diseases through methylation analysis of imprinting control regions. The results suggest that dental pulp stem cells can be used for in vitro functional and therapeutic tests, as well as generating other cell types.
INTERNATIONAL JOURNAL OF ORAL SCIENCE
(2022)
Letter
Respiratory System
Pierre Le Guen, Raphael Borie, Marie Legendre, Clairelyne Dupin, Laetitia Dunogeant, Sebastien Ottaviani, Marie-Pierre Debray, Aurelie Cazes, Philippe Dieude, Caroline Kannengiesser, Bruno Crestani
Review
Pharmacology & Pharmacy
Javier Munoz-Garcia, Dominique Heymann, Irina Giurgea, Marie Legendre, Serge Amselem, Beatriz Castaneda, Frederic Lezot, Jorge William Vargas-Franco
Summary: Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and extra-skeletal manifestations. This review focuses on outlining and describing current pharmacological treatments for OI, including antiresorptive agents, anabolic agents, growth hormone, and anti-TGF beta antibody. The different options and their pharmacokinetic and pharmacodynamic properties will be discussed, with a focus on achieving important clinical goals such as reducing fracture incidence and improving pain.
BIOCHEMICAL PHARMACOLOGY
(2023)
Article
Endocrinology & Metabolism
Recep Oguzhan Isik, Sirmen Kizilcan Cetin, Semra Cetinkaya, Merih Berberoglu, Zeynep Siklar, Elif Ozsu, Zehra Aycan
Summary: This study evaluated the level of aggression in adolescent girls with classical CAH and investigated the disease-related factors that may affect aggression. The results showed no significant difference in aggression level between CAH patients and healthy controls, and the aggression scores and subscale scores were similar in affected female adolescents.
CLINICAL ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Tifenn Desroziers, Gregoire Prevot, Aurore Coulomb, Valerie Nau, Florence Dastot-Le Moal, Philippe Duquesnoy, Melanie Hery, Aurelie Le Borgne, Serge Amselem, Marie Legendre, Nadia Nathan
Summary: This paper reports two related adults with pulmonary fibrosis due to a new homozygous SFTPB pathogenic variant. The variant induces aberrant splicing and almost complete loss of SP-B expression, leading to epithelial cell dysfunction and ILD. This finding highlights the importance of considering SFTPB pathogenic variants in atypical and/or early-onset forms of ILD, especially when a family history is present.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Obstetrics & Gynecology
Angele Boursiera, Augustin Boudry, Valerie Mitchella, Anne Loyens, Nathalie Rives, Alexandre Moerman, Lucie Thomas, Estelle Escudier, Aminata Toure, Marjorie Whitfield, Charles Coutton, Guillaume Martinez, Pierre F. Ray, Zine-Eddine Kherraf, Stephane Viville, Marie Legendre, Thomas Smol, Geoffroy Robin, Anne-Laure Barbotin
Summary: The study found no decreased chances of success in intracytoplasmic sperm injection or adverse obstetric and neonatal outcomes for patients presenting with flagella ultrastructural defects. This reassuring result provides important information for patients with this rare cause of male infertility often associated with genetic causes.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Article
Pediatrics
Sirmen Kizilcan Cetin, Zeynep Siklar, Zehra Aycan, Elif Ozsu, Aysegul Ceran, Seda Erisen Karaca, Gizem Senyazar, Merih Berberoglu
Summary: This study aimed to evaluate the clinical characteristics and clinical experience of parathyroid adenoma in children. Eight children diagnosed with parathyroid adenoma were reviewed, and their clinical, biochemical, and radiological aspects were evaluated. It was found that early diagnosis and surgical treatment were important in preventing complications and achieving favorable outcomes in children with parathyroid adenoma.
TURKISH ARCHIVES OF PEDIATRICS
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Lucie Thomas, Khaled Bouhouche, Marjorie Whitfield, Guillaume Thouvenin, Andre Coste, Bruno Louis, Claire Szymanski, Emilie Bequignon, Jean-Francois Papon, Manon Castelli, Michel Lemullois, Xavier Dhalluin, Valerie Drouin-Garraud, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Bruno Copin, Florence Dastot-Le Moal, Sandrine Couvet, Anne-Laure Barbotin, Catherine Faucon, Isabelle Honore, Bernard Maitre, Nicole Beydon, Aline Tamalet, Nathalie Rives, France Koll, Estelle Escudier, Anne-Marie Tassin, Aminata Toure, Valerie Mitchell, Serge Amselem, Marie Legendre
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Magalie Lodin, Julie Galimand, Florence Dastot-Le Moal, Bruno Copin, Sandra Mercier, Lucile Pinson, Nathalie Collot, Irina Giurgea, Serge Amselem, Marie Legendre
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Respiratory System
Marie Legendre, Guillaume Thouvenin, Jessica Taytard, Marguerite Baron, Muriel Le Bourgeois, Aline Tamalet, Rahma Mani, Gregory Jouvion, Serge Amselem, Estelle Escudier, Nicole Beydon
Summary: In children with primary ciliary dyskinesia (PCD), high nasal nitric oxide (nNO) values are associated with specific genes and potentially hypomorphic mutations in other genes. nNO values increase with the proportion of motile cilia.
ANNALS OF THE AMERICAN THORACIC SOCIETY
(2022)
Meeting Abstract
Endocrinology & Metabolism
Athanasia Stoupa, Isabelle Flechtner, Magali Viaud, Graziella Pinto, Dinane Samara-Boustani, Laura Gonzalez-Briceno, Caroline Thalassinos, Serge Amselem, Marie Legendre, Irene Netchine, Frederic Brioude, Michel Polak
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Article
Endocrinology & Metabolism
Esin Gizem Olgun, Sirmen Kizilcan Cetin, Zeynep Siklar, Zehra Aycan, Elif Ozsu, Aysegul Ceran, Merih Berberoglu
Summary: The prevalence of early puberty in girls with premature pubarche was investigated in this study, along with the time interval between pubarche and thelarche. The results showed that a significant number of patients experienced early breast development after premature pubarche, and a portion of them were overweight or obese. Additionally, preterm birth and being small for gestational age were also associated with early puberty.
CLINICAL PEDIATRIC ENDOCRINOLOGY
(2022)