Article
Genetics & Heredity
Hammad Yousaf, Shagufta Rehmat, Muhammad Jameel, Rabab Ibrahim, Sohana Nadeem Hashmi, Ehtisham Ul Haq Makhdoom, Justyna Iwaszkiewicz, Saadia Maryam Saadi, Muhammad Tariq, Shahid M. Baig, Mathias Toft, Ambrin Fatima, Zafar Iqbal
Summary: Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) is a rare childhood-onset movement disorder characterized by paroxysmal dyskinesia, developmental delay, impaired cognition, progressive psychomotor deterioration, and drug-refractory seizures. In this study, we identified a novel missense variant in the Phosphodiesterase 2A (PDE2A) gene in three consanguineous Pakistani families with overlapping phenotypes. Haplotype analysis revealed a shared haplotype among the families, suggesting a founder effect in this region. Our findings expand the clinical and mutation spectrum of PDE2A-related recessive disease.
Article
Clinical Neurology
Maxime Lafontaine, Anne-Sophie Lia, Sylvie Bourthoumieu, Helene Beauvais-Dzugan, Paco Derouault, Marie-Christine Arne-Bes, Catherine Sarret, Fanny Laffargue, Armelle Magot, Franck Sturtz, Laurent Magy, Corinne Magdelaine
Summary: This study describes three homozygous FIG4-c.122T>C patients with Charcot-Marie-Tooth disease type 4J, showing signs of relative clinical stability. Since FIG4 activity is dose dependent, increasing protein levels may improve the phenotype in these patients.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Genetics & Heredity
Xuefeng Xie, Mazhar Khan, Muhammad Zubair, Abbas Khan, Ranjha Khan, Jianteng Zhou, Yuanwei Zhang, Muzafar Said, Sher Ali Khan, Qamar Zaman, Ghulam Murtaza, Muzamil Ahmad Khan, Wei Liu, Xiaoning Hou, Huan Zhang, Bo Xu, Xiaohua Jiang, Shun Bai, Qinghua Shi
Summary: Non-obstructive azoospermia (NOA) is a major cause of male infertility, with the majority of cases remaining idiopathic. This study identified a novel missense mutation in the DND1 gene using whole-exome sequencing, and demonstrated its impact on male fertility through protein misfolding and weakened interaction with the crucial regulator NANOS2 in primordial germ cell development.
FRONTIERS IN GENETICS
(2022)
Article
Dermatology
Mingfeng Li, Kenneth Lay, Andreas Zimmer, Kristin Technau-Hafsi, Jasmine Wong, Antonia Reimer-Taschenbrecker, Jan Rohr, Ebtesam Abdalla, Judith Fischer, Bruno Reversade, Cristina Has
Summary: A previously unreported NLRP1 gene variant was identified, leading to different clinical presentations in two sisters. The variant triggered the activation of inflammation and resulted in different severity of skin manifestations.
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Article
Immunology
Xianze Luo, Qing Liu, Jinqiu Jiang, Wenjing Tang, Yuan Ding, Lina Zhou, Jie Yu, Xuemei Tang, Yunfei An, Xiaodong Zhao
Summary: LIG4 deficiency is a rare genetic immune deficiency disease with various clinical problems, with the majority of Chinese cases having the unique mutation site p.R278L (c.833G>T). Pedigree and haplotype analyses suggest a founder effect of this mutation in China, highlighting the importance of genetic diagnosis and counseling for affected families. This research may also provide insights into migration patterns of populations with Asian ancestry.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Wenting Zhu, Kai Yan, Xijing Chen, Wei Zhao, Yiqing Wu, Huanna Tang, Ming Chen, Jian Wu, Pengpeng Wang, Runju Zhang, Yiping Shen, Dan Zhang
Summary: This study identified a founder pathogenic variant specific to the Chinese population in PPIB and provided an initial estimation of OI-IX disease incidence in China.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Guoliang Jiang, Lijun Zou, Lingzhi Long, Yijun He, Xin Lv, Yuanyuan Han, Tingting Yao, Yan Zhang, Mao Jiang, Zhangzhe Peng, Lijian Tao, Wei Xie, Jie Meng
Summary: In this study, a female patient with PCD was diagnosed through clinical manifestations, electron microscopy, and immunofluorescence staining. A novel DNAAF4 variant was identified through Whole-exome sequencing. The study confirmed that the mutation led to PCD by reducing the stability of DNAAF4 protein.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Nagia Fahmy, Kathrin Mueller, Peter Munch Andersen, Stefan L. Marklund, Markus Otto, Albert C. Ludolph, Nabila Hamdi
Summary: This study reports a rare case of homozygous SOD1 mutation leading to early onset and severe lower motor neuron-dominant ALS. The mutation resulted in decreased enzymatic activity and the patient exhibited significantly elevated serum neurofilament light chain levels.
JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Ahmad M. Almatrafi, Majed M. Alluqmani, Sulman Basit
Summary: This study investigated a large family with patients experiencing muscle fatigue and weakness. A mutation in the CHRNE gene was identified, and personalized treatment resulted in significant improvement in symptoms. The mutation expands the phenotypic symptoms associated with the CHRNE gene.
Article
Biochemistry & Molecular Biology
Juan Hua, Bo Xu, Wenjing Liu, JingTian Shi, Hui Jiang, XiaoJun Zha, Xiansheng Zhang, Yangyang Wan
Summary: This study identified a new mutation (c.151delG) in the POC1B gene that is associated with both cone-rod dystrophy (CORD) and oligoasthenoteratozoospermia (OAT). The mutation results in loss of POC1B protein in sperm cells. Using CRISPR/Cas9 technology, the mutation was introduced into mice, which showed OAT phenotype and abnormal acrosome and flagella formation in sperm and testicular histology.
HUMAN MOLECULAR GENETICS
(2023)
Article
Genetics & Heredity
Daniele Merico, Yehonatan Pasternak, Mehdi Zarrei, Edward J. Higginbotham, Bhooma Thiruvahindrapuram, Ori Scott, Jessica Willett-Pachul, Eyal Grunebaum, Julia Upton, Adelle Atkinson, Vy H. D. Kim, Elbay Aliyev, Khalid Fakhro, Stephen W. Scherer, Chaim M. Roifman
Summary: Whole-genome sequencing is capable of identifying genetic defects in primary immunodeficiency cases where other methods such as whole-exome sequencing have failed. This method has been proven effective, especially in cases of familial inheritance where it can uncover genetic mutations.
NPJ GENOMIC MEDICINE
(2021)
Article
Endocrinology & Metabolism
Safeer Ahmad, Muhammad Zeeshan Ali, Sumra Wajid Abbasi, Safdar Abbas, Iftikhar Ahmed, Shakil Abbas, Shoaib Nawaz, Mubarak Ziab, Ikhlak Ahmed, Khalid A. Fakhro, Muzammil Ahmad Khan, Ammira Al-Shabeeb Akil
Summary: This study identified a pathogenic mutation GHRHR p.Glu72* that disrupts growth hormone signaling and causes IGHD type IV. The genotype-phenotype correlation was established through clinical and molecular biological studies, which may help in early detection and better therapeutic intervention.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ali Ghazanfar, Nadine Kraemer, Sami Zaqout, Abdul Waheed, Mohsan Hanif, Sadia Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M. Kaindl
Summary: Mutations in MCM7 are identified as a novel cause of autosomal recessive primary microcephaly (MCPH) and intellectual disability, highlighting its crucial role in nervous system development. The expression pattern of MCM7 is consistent in mouse and human cells, affecting cell viability and proliferation.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Genetics & Heredity
Mengmeng Lu, Shuai Kong, Mingfei Xiang, Yu Wang, Jingjing Zhang, Zongliu Duan, Xiaomin Zha, Fengsong Wang, Yunxia Cao, Fuxi Zhu
Summary: In this study, a novel homozygous missense mutation of PMFBP1 was identified in an infertile male from a consanguineous family, leading to a significant decrease in expression of the mutant protein in sperm. This mutation may be a cause of acephalic spermatozoa syndrome, providing a basis for genetic counseling for the patient.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Infectious Diseases
Guillaume Miltgen, Daniel Martak, Benoit Valot, Laure Kamus, Thomas Garrigos, Guillaume Verchere, Houssein Gbaguidi-Haore, Celine Ben Cimon, Mahery Ramiandrisoa, Sandrine Picot, Anne Lignereux, Geoffrey Masson, Marie-Christine Jaffar-Bandjee, Olivier Belmonte, Eric Cardinale, Didier Hocquet, Patrick Mavingui, Xavier Bertrand
Summary: Through a study on Reunion Island, we found that despite high contamination levels in animals, they are not the main source of ESBL-Ec in humans on this densely populated, high-income island. Therefore, public health policies should primarily focus on human-to-human transmission to prevent human infections with ESBL-Ec.
JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY
(2022)
Article
Endocrinology & Metabolism
Ravi Savarirayan, Penny Ireland, Melita Irving, Dominic Thompson, Ines Alves, Wagner A. R. Baratela, James Betts, Michael B. Bober, Silvio Boero, Jenna Briddell, Jeffrey Campbell, Philippe M. Campeau, Patricia Carl-Innig, Moira S. Cheung, Martyn Cobourne, Valerie Cormier-Daire, Muriel Deladure-Molla, Mariana del Pino, Heather Elphick, Virginia Fano, Brigitte Fauroux, Jonathan Gibbins, Mari L. Groves, Lars Hagenas, Therese Hannon, Julie Hoover-Fong, Morrys Kaisermann, Antonio Leiva-Gea, Juan Llerena, William Mackenzie, Kenneth Martin, Fabio Mazzoleni, Sharon McDonnell, Maria Costanza Meazzini, Josef Milerad, Klaus Mohnike, Geert R. Mortier, Amaka Offiah, Keiichi Ozono, John A. Phillips, Steven Powell, Yosha Prasad, Cathleen Raggio, Pablo Rosselli, Judith Rossiter, Angelo Selicorni, Marco Sessa, Mary Theroux, Matthew Thomas, Laura Trespedi, David Tunkel, Colin Wallis, Michael Wright, Natsuo Yasui, Svein Otto Fredwall
Summary: Achondroplasia, the most common skeletal dysplasia, presents various challenges for affected individuals throughout their lifetimes. The first International Consensus Statement aims to enhance global standardization and improvement of clinical care for children and adults with achondroplasia.
NATURE REVIEWS ENDOCRINOLOGY
(2022)
Article
Genetics & Heredity
Eugenie Koumakis, Valerie Cormier-Daire, Azeddine Dellal, Marc Debernardi, Bernard Cortet, Francoise Debiais, Rose-Marie Javier, Thierry Thomas, Nadia Mehsen-Cetre, Martine Cohen-Solal, Elisabeth Fontanges, Michel Laroche, Valerie Porquet-Bordes, Christian Marcelli, Alexandra Benachi, Karine Briot, Christian Roux, Catherine Cormier
Summary: The study aimed to investigate fractures occurring during pregnancy and post-partum in OI patients. Results showed that patients with pregnancy or post-partum fractures were older with lower bone mineral density, and most were breastfeeding. OI management during pregnancy and post-partum should focus on controlling modifiable osteoporosis risk factors.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Genetics & Heredity
Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O'Donnell-Luria, Catherine Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita S. Saenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia A. L. Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke Verbeek, Jiddeke M. van de Kamp, Janneke M. M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange-Line Bruel, Arthur Sorlin, Mary Willis, Zoe Powis, Thomas Smol, Catherine Vincent-Delorme, Diana Baralle, Estelle Colin, Nicole Revencu, Eduardo Calpena, Andrew O. M. Wilkie, Maya Chopra, Valerie Cormier-Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Alessandra Terracciano, Nicola Specchio, Marco Tartaglia, Marlene Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften
Summary: This study reports a cohort of individuals with de novo missense variants in six H4 genes, which are associated with neurodevelopmental features such as intellectual disability and developmental delay. Functional consequences of these variants were confirmed in zebrafish embryos.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Alessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, Chiara Paganini, Catherine Vanhulle, Walid Haouari, Nerea Gorria-Redondo, Elena Aznal-Sainz, Nathalie Boddaert, Laura Planas-Serra, Agatha Schluter, Valentina Velez-Santamaria, Edgard Verdura, Arnaud Bruneel, Antonio Rossi, Celine Huber, Aurora Pujol, Valerie Cormier-Daire
Summary: Guasto et al. report that functional impairment of SLC35B2 causes a novel syndromic chondrodysplasia with hypomyelinating leukodystrophy, most likely through a proteoglycan sulphation defect. This is the first time that SLC35B2 variants have been associated with bone and brain development in humans.
Article
Genetics & Heredity
M. Mouille, M. Rio, S. Breton, M. L. Piketty, A. Afenjar, J. Amiel, Y. Capri, A. Goldenberg, C. Francannet, C. Michot, C. Mignot, L. Perrin, C. Quelin, J. Van Gils, G. Barcia, V Pingault, G. Maruani, E. Koumakis, V Cormier-Daire
Summary: This study systematically reviewed the skeletal manifestations of SATB2-associated syndrome and found that pathogenic variants in SATB2 are responsible for skeletal demineralization and osteoporosis. The study also discovered increased levels of bone formation markers, supporting the key role of SATB2 in osteoblast differentiation. Therefore, bone evaluation is recommended for children and adult patients with SATB2-associated syndrome.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Genetics & Heredity
Marion Aubert-Mucca, Celine Huber, Genevieve Baujat, Caroline Michot, Mohammed Zarhrate, Marc Bras, Lucile Boutaud, Valerie Malan, Tania Attie-Bitach, Valerie Cormier-Daire
Summary: We analyzed 50 clinically identified EVC cases from 45 families to further understand the EVC phenotype and its molecular basis. Our study confirmed the major role of EVC and EVC2 genes in EVC syndrome and identified previously unreported copy number variations. We also found a high proportion of heterozygous deletions in EVC/EVC2, mostly inherited from the mother, possibly resulting from recombinations involving Alu sequences.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Celine Huber, Carlos Anton-Plagaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H. van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J. Cullen, Shinji Saitoh, Kohji Kato
Summary: This study reported three new cases of VPS35L-associated Ritscher-Schinzel syndrome (RSS) and investigated the clinical spectrum and underlying molecular mechanism. Novel complications, including hypercholesterolemia, hypogammaglobulinemia, and intestinal lymphangiectasia, were identified in addition to the typical features of RSS. Cellular analysis revealed that VPS35L deficiency decreased the cell surface level of lipoprotein receptor-related protein 1 and low-density lipoprotein receptor, resulting in reduced low-density lipoprotein cellular uptake.
JOURNAL OF MEDICAL GENETICS
(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
Medicine, Research & Experimental
Sinead NiMhurchadha, Karen Butler, Rob Argent, Katja Palm, Genevieve Baujat, Valerie Cormier-Daire, Klaus Mohnike
Summary: The study aimed to explore the experience of parents and children in initiating and administering vosoritide treatment at home. The findings revealed that parents' decision to take treatment is based on a desire to relieve future medical complications and increase height for improved independence, considering the extent of severe side effects. They manage treatment challenges through perseverance and available support.
ADVANCES IN THERAPY
(2023)
Article
Genetics & Heredity
Sheila Unger, Carlos R. R. Ferreira, Geert R. R. Mortier, Houda Ali, Debora R. Bertola, Alistair Calder, Daniel H. H. Cohn, Valerie Cormier-Daire, Katta M. M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. L. Warman, Andrea Superti-Furga
Summary: The classification of genetic skeletal disorders has been revised in its 11th edition, now including 771 entries associated with 552 genes, reflecting advancements in DNA sequencing technology. The adoption of the dyadic naming system is the most notable change, systematically linking a phenotypic entity to the gene it originates from. This shift is considered a significant improvement, providing more informative and error-resistant nomenclature compared to traditional methods. Despite the adoption of dyadic naming, efforts have been made to maintain a strong connection to the MIM catalog and its historical data. The list of disorders and genes in the Nosology remains valuable for differential diagnosis, bioinformatic analysis, and driving advancements in biology and medicine.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
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
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)