Article
Genetics & Heredity
Cristina M. Justice, Anthony M. Musolf, Araceli Cuellar, Wanda Lattanzi, Emil Simeonov, Radka Kaneva, Justin Paschall, Michael Cunningham, Andrew O. M. Wilkie, Alexander F. Wilson, Paul A. Romitti, Simeon A. Boyadjiev
Summary: Craniosynostosis is a congenital defect characterized by premature fusion of one or more skull sutures. Genome-wide association studies have identified genes and variants associated with this defect, and further sequencing and functional studies of these regions are important for understanding the underlying mechanisms.
Article
Clinical Neurology
Arvid Frostell, Maryam Haghighi, Jiri Bartek, Ulrika Sandvik, Bengt Gustavsson, Adrian Elmi-Terander, Erik Edstrom
Summary: This study evaluated the surgical treatment of isolated nonsyndromic sagittal synostosis using a modified subtotal cranial vault remodeling technique, showing that performing surgery at a younger age leads to a larger increase in long-term cranial index outcomes.
NEUROSURGICAL FOCUS
(2021)
Article
Surgery
Benjamin B. Massenburg, Ezgi Mercan, Elizabeth Shepard, Craig B. Birgfeld, Srinivas M. Susarla, Amy Lee, Richard G. Ellenbogen, Richard A. Hopper
Summary: This study quantified the change in three-dimensional skull morphometrics for patients with sagittal synostosis at different time points. The results showed that certain cranial volume and shape parameters were not changed by surgery but normalized without surgical intervention by 2 years. Other parameters were corrected after surgery and maintained at 2 years. Linear models suggested that older age at surgery resulted in certain deformities and enlarged cranial vault volumes at 2 years. Preoperative severity was found to be the best predictor of 2-year morphometric outcomes.
PLASTIC AND RECONSTRUCTIVE SURGERY
(2023)
Article
Surgery
Sarut Chaisrisawadisuk, Mark H. Moore
Summary: This study found a high prevalence of mendosal sutures in isolated sagittal craniosynostosis patients and adult-like types of lambdoid suture interdigitating patterns in young patients with sagittal craniosynostosis. No associations of the remaining parameters with specific synostoses were revealed.
JOURNAL OF CRANIOFACIAL SURGERY
(2021)
Article
Engineering, Biomedical
Sara Ajami, Naiara Rodriguez-Florez, Juling Ong, Noor ul Owase Jeelani, David Dunaway, Greg James, Freida Angullia, Curtis Budden, Selim Bozkurt, Amel Ibrahim, Patrizia Ferretti, Silvia Schievano, Alessandro Borghi
Summary: This study aimed to characterize the mechanical and microstructural properties of parietal bone in patients with sagittal craniosynostosis. Elastic moduli of cortical tables and diploe were found to be correlated with bone mineral density, independent of patient age. Different structural classifications of bone samples showed consistent mechanical properties.
JOURNAL OF THE MECHANICAL BEHAVIOR OF BIOMEDICAL MATERIALS
(2022)
Article
Surgery
Dillan F. Villavisanis, Jessica D. Blum, Daniel Y. Cho, Carlos Barrero, Sameer Shakir, Hyun-Duck Nah, Jordan W. Swanson, Jesse A. Taylor, Scott P. Bartlett
Summary: This study characterizes the fusion patterns of the sagittal suture and determines its associations with head shape in patients with nonsyndromic sagittal craniosynostosis. The results suggest that complete fusion of the anterior one-third of the sagittal suture may predict increased severity of scaphocephaly as quantified by cephalic index (CI).
JOURNAL OF CRANIOFACIAL SURGERY
(2022)
Article
Genetics & Heredity
Ying Gao, Dan Wu, Bo Chen, Yinghui Chen, Qi Zhang, Pengjun Zhao
Summary: In this study, whole-exome sequencing was conducted on PDA patients, leading to the identification of six novel genes and 18 damaging variants associated with PDA. These findings provide new insights into the genetic etiology of PDA and may contribute to further research on genetic risk factors for congenital heart defects.
FRONTIERS IN GENETICS
(2022)
Article
Surgery
Marizela Kljajic, Giovanni Maltese, Peter Tarnow, Peter Sand, Lars Kolby
Summary: The study found that children treated for craniosynostosis generally display lower adaptive behavior skills, with the sagittal group showing deficiencies in social skills and self-care/self-direction. However, no significant differences were observed in behavioral outcomes between the two surgical techniques used for sagittal synostosis.
PLASTIC AND RECONSTRUCTIVE SURGERY
(2021)
Article
Clinical Neurology
Alexander T. Wilson, Linda Gaillard, Sarah L. Versnel, Jochem K. H. Spoor, Marie-Lise C. Van Veelen, Irene M. J. Mathijssen
Summary: The study reports that spring-assisted cranial vault expansion (SAE) may result in less favorable outcomes in patients with Crouzon syndrome and sagittal suture synostosis compared to frontobiparietal (FBP) expansion, potentially due to issues such as concurrent intracranial hypertension and poor aesthetic results. Patients with Crouzon syndrome and sagittal synostosis who undergo SAE often require a revision FBP operation, leading the authors to consider Crouzon syndrome a contraindication for correcting SS with springs.
NEUROSURGICAL FOCUS
(2021)
Article
Genetics & Heredity
Cristina Perez-Becerril, Andrew J. Wallace, Helene Schlecht, Naomi L. Bowers, Philip T. Smith, Carolyn Gokhale, Helen Eaton, Chris Charlton, Rachel Robinson, Ruth S. Charlton, D. Gareth Evans, Miriam J. Smith
Summary: Schwannomatosis is a hereditary tumor predisposition syndrome characterized by multiple nerve sheath tumors that cause severe pain. In this study, researchers performed genetic screening on schwannomatosis patients without identified pathogenic variants. The results suggest that the candidate genes DGCR8, COQ6, CDKN2A, and CDKN2B are not major contributors to schwannomatosis risk.
Article
Surgery
Rahul M. Varman, Nicole Van Spronsen, Laszlo Nagy, Joshua Demke
Summary: The study compared cephalometric outcomes of early surgical intervention without bone grafting to later intervention with bone grafting in patients with nonsyndromic sagittal suture craniosynostosis. It was found that both groups showed significant increase in postoperative cephalic index, and there was no significant difference in cephalic index change between the two groups.
JOURNAL OF CRANIOFACIAL SURGERY
(2021)
Article
Biochemistry & Molecular Biology
Thashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, Khurram Liaqat, Anushree Acharya, Arnaud P. J. Giese, Liz M. Nouel-Saied, Abdul Nasir, Jenna L. Everard, Lana M. Pollock, Shaoyuan Zhu, Michael J. Bamshad, Deborah A. Nickerson, Raja Hussain Ali, Asmat Ullah, Abdul Wali, Ghazanfar Ali, Regie Lyn P. Santos-Cortez, Zubair M. Ahmed, Brian M. McDermott Jr, Muhammad Ansar, Saima Riazuddin, Wasim Ahmad, Suzanne M. Leal
Summary: Research on consanguineous Pakistani families identified rare homozygous missense variants in four genes associated with hearing impairment. Through linkage analysis, in silico protein analysis, and mouse inner ear tissue analysis, new candidate genes for hearing impairment were proposed, adding to our understanding of the etiology of HI.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Dentistry, Oral Surgery & Medicine
Jinglei Zheng, Miao Yu, Haochen Liu, Tao Cai, Hailan Feng, Yang Liu, Dong Han
Summary: This study aimed to identify MSX1 gene variants in Chinese families with nonsyndromic oligodontia and analyze their functional effects. Five novel MSX1 variants were found, with preliminary in vitro studies showing abnormal subcellular localization compared to the wild type. Three variants were classified as pathogenic, while two were of uncertain significance. The study expanded the spectrum of nonsyndromic oligodontia variants and provided valuable information for genetic counseling.
INTERNATIONAL JOURNAL OF ORAL SCIENCE
(2021)
Article
Cell Biology
Ekaterina Lyulcheva-Bennett, Daimark Bennett
Summary: Rare genetic disorders pose a significant burden on healthcare systems and societies worldwide, with many patients remaining undiagnosed. Improved gene discovery and variant interpretation are needed. Abnormal phosphorylation can lead to various diseases, and many disease genes associated with phosphatases have yet to be discovered. A systematic survey of 189 genes encoding phosphatase catalytic subunits found that 49% of phosphatases carried de novo mutations. Among them, 25% have been previously linked to genetic disorders. This study identified 9 novel candidate rare-disease genes and highlights the importance of iterative analysis of genomic and phenotypic data for functional validation and better clinical outcomes.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Genetics & Heredity
Moon Ley Tung, Bharatendu Chandra, Jaclyn Kotlarek, Marcelo Melo, Elizabeth Phillippi, Cristina M. Justice, Anthony Musolf, Simeon A. Boyadijev, Paul A. Romitti, Benjamin Darbro, Hatem El-Shanti
Summary: The case report describes a one-year-old female with Ulnar-mammary syndrome (UMS) presenting with limb anomalies and a novel variant in TBX3 gene, inherited from her father who also had UMS. Whole genome analysis in the father revealed a variant in the EFNA4 gene associated with sagittal craniosynostosis.
Article
Surgery
Kate M. Lesciotto, Yann Heuze, Ethylin Wang Jabs, Joseph M. Bernstein, Joan T. Richtsmeier
PLASTIC AND RECONSTRUCTIVE SURGERY
(2018)
Letter
Multidisciplinary Sciences
Andrej A. Evteev, Yann Heuze
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2018)
Article
Developmental Biology
Greg Holmes, Courtney O'Rourke, Susan M. Motch Perrine, Na Lu, Harm van Bakel, Joan T. Richtsmeier, Ethylin Wang Jabs
Article
Pediatrics
Anshuman Sewda, Sierra R. White, Monica Erazo, Ke Hao, Gemma Garcia-Fructuoso, Ivette Fernandez-Rodriguez, Yann Heuze, Joan T. Richtsmeier, Paul A. Romitti, Boris Reva, Ethylin Wang Jabs, Inga Peter
PEDIATRIC RESEARCH
(2019)
Article
Anthropology
Daniel Garcia-Martinez, Markus Bastir, Nicole Torres-Tamayo, Paul O'Higgins, Isabel Torres-Sanchez, Francisco Garcia-Rio, Yann Heuze
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY
(2019)
Article
Cell Biology
Susan M. Motch Perrine, Meng Wu, Nicholas B. Stephens, Divya Kriti, Harm van Bakel, Ethylin Wang Jabs, Joan T. Richtsmeier
DISEASE MODELS & MECHANISMS
(2019)
Article
Anatomy & Morphology
Jessica L. Joganic, Yann Heuze
JOURNAL OF ANATOMY
(2019)
Article
Ophthalmology
Romain Touze, Yann Heuze, Matthieu P. Robert, Dominique Bremond-Gignac, Charles-Joris Roux, Syril James, Giovanna Paternoster, Eric Arnaud, Roman Hossein Khonsari
BRITISH JOURNAL OF OPHTHALMOLOGY
(2020)
Article
Dentistry, Oral Surgery & Medicine
S. Ferrier, Q. Hennocq, N. Leboulanger, V Couloigner, F. Denoyelle, Y. Heuze, R. H. Khonsari
JOURNAL OF STOMATOLOGY ORAL AND MAXILLOFACIAL SURGERY
(2020)
Article
Multidisciplinary Sciences
Daniel Garcia-Martinez, Markus Bastir, Chiara Villa, Francisco Garcia-Rio, Isabel Torres-Sanchez, Wolfgang Recheis, Alon Barash, Roman Hossein Khonsari, Paul O'Higgins, Marc R. Meyer, Yann Heuze
SCIENTIFIC REPORTS
(2020)
Article
Multidisciplinary Sciences
Daniel Garcia-Martinez, Markus Bastir, Asier Gomez-Olivencia, Bruno Maureille, Liubov Golovanova, Vladimir Doronichev, Takeru Akazawa, Osamu Kondo, Hajime Ishida, Dominic Gascho, Christoph P. E. Zollikofer, Marcia Ponce de Leon, Yann Heuze
Article
Multidisciplinary Sciences
Aurelien Mounier, Yann Heuze, Mathilde Samsel, Sergey Vasilyev, Laurent Klaric, Sebastien Villotte
SCIENTIFIC REPORTS
(2020)
Article
Multidisciplinary Sciences
Greg Holmes, Ana S. Gonzalez-Reiche, Madrikha Saturne, Susan M. Motch Perrine, Xianxiao Zhou, Ana C. Borges, Bhavana Shewale, Joan T. Richtsmeier, Bin Zhang, Harm van Bakel, Ethylin Wang Jabs
Summary: Research found enriched expression of Hhip in the mesenchyme of the murine coronal suture, and sutural dysgenesis in Hhip-/- mutants, indicating the necessity of Hhip for normal development of the coronal suture.
NATURE COMMUNICATIONS
(2021)
Article
Genetics & Heredity
Ryan W. Gates, Bryn D. Webb, David A. Stevenson, Ethylin Wang Jabs, Colette Defilippo, Maura R. Z. Ruzhnikov, Christina G. Tise
Summary: Moebius syndrome is a congenital disorder characterized by nonprogressive palsies of cranial nerves VI and VII, resulting in facial weakness and inability to abduct the eye(s). The etiology of Moebius syndrome is still unclear, as most cases are sporadic and do not have a known genetic cause.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)