Article
Dermatology
Hwa Young Kim, Hyun Beom Song, Kyu Han Kim, Jeong Hun Kim, Jong-Hee Chae, Man Jin Kim, Moon-Woo Seong, Jung Min Ko
Summary: In this study, clinical characteristics of 25 Korean IP patients were reviewed, revealing typical skin manifestations in all patients at birth or during the neonatal period. The extracutaneous findings were varied, with high variability in phenotype scores.
EXPERIMENTAL DERMATOLOGY
(2021)
Review
Pediatrics
Kang Nien How, Hazel Jing Yi Leong, Zacharias Aloysius Dwi Pramono, Kin Fon Leong, Zee Wei Lai, Wei Hsum Yap
Summary: The translation provides an overview of the genetic mutations, clinical manifestations, and pathophysiology of incontinentia pigmenti. Further research is needed to understand the clinical genotype-phenotype correlation and develop personalized treatment strategies.
FRONTIERS IN PEDIATRICS
(2022)
Article
Medicine, General & Internal
Snezana Minic, Natasa Cerovac, Ivana Novakovic, Slobodan Gazikalovic, Svetlana Popadic, Dusan Trpinac
Summary: Incontinentia pigmenti (IP) is a rare skin disease accompanied by anomalies in teeth, eyes, and the central nervous system (CNS). Mutations in the IKBKG gene are responsible for IP. Magnetic resonance imaging (MRI) showed that corpus callosum (CC) abnormalities were the most common CNS abnormalities in IP. This study aimed to identify CC abnormalities, their relationship with IKBKG mutations, and the possible presence of mutations in other genes. A group of seven IP patients were examined, and genetic analyses, MRI, and whole exome sequencing (WES) were performed. WES analysis revealed IKBKG mutations in all patients. One patient with a mutation in a gene other than IKBKG was excluded from further study. Among the four patients with clinically diagnosed CNS anomalies, two had MRI-diagnosed CC abnormalities. The coexistence of IKBKG mutation and CC abnormalities, along with the absence of other mutations, suggests that IKBKG may be responsible for CC abnormalities.
Article
Medicine, General & Internal
Lingfeng Xie, Yong Zhu, Liya He, Bing Yu, Jiajue Wang, Ruiqiang Fan, Xiumei Mo, Yu Zhang, Ting Xie
Summary: We report a rare case of incontinentia pigmenti (IP) in a 4-month-old female infant with erythematous vesicular skin lesions. Genetic evaluation ruled out interference from the pseudogene IKBKGP and confirmed the diagnosis of IP. The infant's dermatologic symptoms significantly improved during a 2-year follow-up, with no recurrence or other associated symptoms in different systems.
FRONTIERS IN MEDICINE
(2023)
Article
Pediatrics
Miki Kawai, Atsuya Sugimoto, Yasunori Ishihara, Takema Kato, Hiroki Kurahashi
Summary: Incontinentia pigmenti (IP) is a skin disorder caused by mutations of the IKBKG/NEMO gene, which is mostly lethal in males in utero. A rare case of a female infant with an IKBKG gene deletion was reported, and a low-level mosaic deletion was also identified in the father's peripheral blood, indicating a rare mode of father-to-daughter transmission of IP.
Article
Dermatology
Jingjing Jiang, Junjie Zeng, Qi He, Jiao Yang, Shenglan Wang, Zhengzhong Zhang
Summary: The study aimed to identify NEMO gene mutations in two Chinese females with incontinentia pigmenti. The results showed a rare frameshift mutation in exon 5 of the NEMO gene in patient 1 with a family history, and a common deletion of exons 4-10 of the NEMO gene in sporadic patient 2. Genetic testing is helpful for early diagnosis and genetic counseling for families.
CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY
(2022)
Article
Medicine, General & Internal
Snezana Minic, Dusan Trpinac, Ivana Novakovic, Natasa Cerovac, Danijela Dobrosavljevic Vukojevic, Jeremie Rosain
Summary: The diagnosis of rare diseases is challenging due to their numerous nature, diverse clinical manifestations, and potential coexistence of multiple diseases. Careful observation of dermatological signs and the establishment of accurate diagnostic criteria and publicly accessible databases are essential for accurate diagnosis.
Article
Dermatology
Stefanie Huebner, Agnes Schwieger-Briel, Kristin Technau-Hafsi, Sorina Danescu, Adrian Baican, Martin Theiler, Lisa Weibel, Cristina Has
Summary: Incontinentia pigmenti is a rare X-linked dominantly inherited systemic disease affecting primarily the skin and other neuroectodermal tissues. This study involving 30 patients revealed a range of cutaneous and extracutaneous manifestations, with common genetic deletions and other pathogenic variants identified. Regular evaluation of extracutaneous involvement is recommended for diagnosis and monitoring.
JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT
(2022)
Article
Medicine, General & Internal
You-Ran Cai, Yong Liang, Xin Zhong
Summary: Incontinentia pigmenti (IP) is a rare genetic disease with various manifestations, including ocular abnormalities such as retinal detachment (RD). We present a case of an 11-year-old girl with IP who had bilateral asymmetrical RD. The patient underwent vitrectomy and retinal laser treatment, resulting in visual acuity improvement and resolution of retinal abnormalities.
WORLD JOURNAL OF CLINICAL CASES
(2022)
Article
Dermatology
Reiva Farah Dwiyana, Ivan Daniel Banjarnahor, Inne Arline Diana, Srie Prihianti Gondokaryono, Raden Mohamad Rendy Ariezal Effendi, Vina Feriza
Summary: Incontinentia pigmenti is a rare genodermatosis that primarily affects women. It is characterized by multiple phases of skin manifestations following Blaschko's lines, as well as abnormalities in the eyes, central nervous system, and teeth. Ocular involvement can occur from birth and can be classified as retinal or non-retinal disorders. This article reports two cases of incontinentia pigmenti in baby girls with overlapping skin phases and ocular manifestations. The diagnosis was made based on clinical signs and additional examination of the skin and eyes. Histopathological examination confirmed the diagnosis of incontinentia pigmenti, and ocular exams revealed retinal neovascularization. Patients should be monitored for the development of other eye disorders such as visual impairment.
CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY
(2022)
Article
Medicine, General & Internal
Wen-Chao Li, Man-Li Li, Jiang-Wei Ding, Lei Wang, Shu-Ren Wang, Yang-Yang Wang, Li-Fei Xiao, Tao Sun
Summary: Incontinentia pigmenti (IP) is a rare genetic disorder that affects multiple systems of the body, with eye, teeth, and central nervous system involvement as common initial symptoms. This paper reports a case of IP complicated by intracranial arachnoid cyst (IAC) to share diagnosis and treatment experience with other clinicians.
WORLD JOURNAL OF CLINICAL CASES
(2022)
Article
Dermatology
Yufei Su, Huifang Zhang, Zongyi Zou, Yingge Ma, Huiping Zhang, Jun Wen, Hui Li
Summary: This study retrospectively analyzed the clinical, blood, pathological, radiological, genetic, and follow-up data of 32 neonatal patients diagnosed with IP from 2010 to 2021 in Xi'an, China, aiming to highlight the clinical features and evaluate the prognosis of neonatal IP. The results showed that 93.75% of the patients had eosinophilia and 62.5% had thrombocytosis. Furthermore, erythema and superficial vesicles were observed in linear distribution in the first week of age in 96.88% of the patients. In addition, genetic mutations in the NEMO gene were detected in two different types.
INTERNATIONAL JOURNAL OF DERMATOLOGY
(2023)
Article
Medicine, Research & Experimental
Sara H. Osum, Eunice I. Oribamise, Stanislas M. A. S. Corbiere, Mandy Taisto, Tyler Jubenville, Alex Coutts, Mark N. Kirstein, James Fisher, Christopher Moertel, Ming Du, David Bedwell, David A. Largaespada, Adrienne L. Watson
Summary: Neurofibromatosis type 1 (NF1) is caused by germline mutations in the tumor-suppressor gene NF1, leading to an increased risk of nervous system tumors. In this study, a minipig model of NF1 carrying a premature termination codon (PTC) was used to investigate the potential of nonsense suppression in restoring expression of the NF1-encoded protein neurofibromin. The results showed that nonsense suppression did not significantly increase neurofibromin in primary NF1-'- Schwann cells, but it reduced phosphorylated ERK.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2023)
Article
Dermatology
Youming Guo, Wenbo Bu, Weixue Jia, Yuanyuan Zhang, Chengrang Li
Summary: Incontinentia pigmenti (IP) is a rare genetic skin disorder that affects multiple areas of the body. We present the case of a female patient with mild IP caused by a gene mutation. This is the first report of a female patient with this mutation.
PEDIATRIC DERMATOLOGY
(2023)
Article
Endocrinology & Metabolism
Yun Jiang, Kristin Mueller, Mahtab A. Khan, Julian C. Assmann, Josephine Lampe, Knut Kilau, Marius Richter, Maximilian Kleint, Dirk A. Ridder, Norbert Huebner, Marc Schmidt-Supprian, Jan Wenzel, Markus Schwaninger
Summary: The study investigated angiogenesis in cerebral small-vessel diseases, revealing the crucial role of Nemo in productive angiogenesis and its potential to counterbalance vessel loss. Experimental results showed that newborn endothelial cells were particularly vulnerable to ongoing recombination.
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM
(2021)
Article
Agriculture, Dairy & Animal Science
Marie Abitbol, Vidhya Jagannathan, Marie Lopez, Ambre Courtin, Caroline Dufaure de Citres, Vincent Gache, Tosso Leeb
Summary: Congenital coat-colour-related deafness is common in certain canine breeds. A non-syndromic deafness in Beauceron dogs was identified, which is not linked to coat colour. A CDH23:c.700C>T variant was found in affected dogs, and it can be easily detected with a genetic test to prevent at-risk matings.
Article
Agriculture, Dairy & Animal Science
Heidi Signer-Hasler, Lucas Casanova, Alex Barenco, Blaise Maitre, Alessandro Bagnato, Mario Vevey, Beate Berger, Mojca Simcic, Denis Boichon, Aurelien Capitan, Ivica Medugorac, Joern Bennewitz, Gabor Meszaros, Johann Soelkner, Cord Droegemueller, Christine Flury
Summary: We analyzed genome-wide SNP data from 18 local cattle breeds from the Alpine region to understand their population structure and identify genomic regions involved in positive selection. Different breeds like Evolener, Eringer, Valdostana Pezzata Nera, and Valdostana Castana showed distinct genetic differences compared to other Alpine breeds. We found selection signatures on chromosome 6 near genes related to coat color and body size, and identified 47 genome regions with ROH islands using high-density SNP data. The results provide insights into adaptation to the alpine environment and specific characteristics in local Alpine cattle breeds.
Article
Veterinary Sciences
Rodrigo Gutierrez-Quintana, Matthias Christen, Kiterie M. E. Faller, Julien Guevar, Vidhya Jagannathan, Tosso Leeb
Summary: This study reports a case of congenital insensitivity to pain (CIP) in a family of mixed breed dogs and identifies a likely pathogenic variant in the SCN9A gene. Both dogs from the litter showed the absence of superficial and deep pain perception in the entire body. Histopathological evaluations were normal. This is the first report of a spontaneous pathogenic SCN9A variant in domestic animals.
JOURNAL OF VETERINARY INTERNAL MEDICINE
(2023)
Article
Veterinary Sciences
Stephanie Scheemaeker, Marine Inglebert, Sylvie Daminet, Martina Dettwiler, Anna Letko, Cord Drogemuller, Martin Kessler, Richard Ducatelle, Sven Rottenberg, Miguel Campos
Summary: Organoid cultures were established as an in vitro model to study new treatments for canine medullary thyroid carcinoma (cMTC) and evaluate the effects of antitumor drugs on the viability of organoids.
VETERINARY AND COMPARATIVE ONCOLOGY
(2023)
Article
Agriculture, Dairy & Animal Science
Sarah Kiener, Susanne Ahman, Vidhya Jagannathan, Sara Soto, Tosso Leeb
Article
Biochemistry & Molecular Biology
Sarah Kiener, Barbara G. McMahill, Verena K. Affolter, Monika Welle, Julie A. Yager, Vidhya Jagannathan, Tosso Leeb
Summary: This study investigated two 4-month-old sibling domestic short haired kittens with various skin abnormalities. Whole genome sequencing revealed a homozygous missense variant in the SOAT1 gene, which has been associated with hair and sebaceous gland defects in mice. This finding suggests that SOAT1 variants may also contribute to hereditary sebaceous gland dysplasias in humans and domestic animals.
MOLECULAR GENETICS AND GENOMICS
(2023)
Article
Clinical Neurology
Matthias Christen, Rodrigo Gutierrez-Quintana, Matthew Green, Kiterie M. E. Faller, Mark Lowrie, Clare Rusbridge, Kenny Bossens, Cathryn Mellersh, Louise Pettitt, Tiina Heinonen, Hannes Lohi, Vidhya Jagannathan, Tosso Leeb
Summary: This study identified a genetic variant in Weimaraner dogs that causes a paroxysmal dystonia-ataxia syndrome, suggesting its potential relevance for diagnosing humans with similar movement disorders.
MOVEMENT DISORDERS
(2023)
Article
Multidisciplinary Sciences
Kevin Batcher, Scarlett Varney, Terje Raudsepp, Matthew Jevit, Peter Dickinson, Vidhya Jagannathan, Tosso Leeb, Danika Bannasch
Summary: LINE-1 is an active transposable element that inserts host gene retrocopies, resulting in retrocopy number variants (retroCNVs). We discovered 437 retrocopy insertions in 86 equids, with only 5 retroCNVs shared between horses and other equids. A large number of segmentally duplicated LCORL retrocopies were found in all equids but absent in other perissodactyls, and the majority of LCORL transcripts in horses and donkeys originated from these retrocopies. The initial LCORL retrotransposition occurred 18 million years ago, coinciding with equid evolution characterized by body size increase, digit number reduction, and dentition changes. Evolutionary conservation, high expression levels, and ancient timeline support a functional role for the LCORL retrocopy.
Article
Veterinary Sciences
Marios Charalambous, Andrea Fischer, Heidrun Potschka, Matthew C. Walker, Robrecht Raedt, Kristl Vonck, Paul Boon, Hannes Lohi, Wolfgang Loescher, Gregory Worrell, Tosso Leeb, Andrew McEvoy, Pasquale Striano, Gerhard Kluger, Aristea S. Galanopoulou, Holger A. Volk, Sofie F. M. Bhatti
Summary: Epilepsy is a complex disorder with a genetic basis, and research using animal models, including dogs, has improved our understanding of its pathophysiology and treatment. Drug-resistant epilepsy is a significant issue in both humans and dogs, highlighting the need for evaluation and exploration of pharmacological and non-pharmacological therapeutic options. Collaboration between human and veterinary neurologists is important for improving treatment outcomes and potentially translating knowledge between species. This article discusses the similarities and knowledge gaps in epileptology, aiming to establish a framework for future translational research.
VETERINARY JOURNAL
(2023)
Article
Genetics & Heredity
Anna Letko, Benoit Hedan, Anna Snell, Alexander C. Harris, Vidhya Jagannathan, Goran Andersson, Bodil S. Holst, Elaine A. Ostrander, Pascale Quignon, Catherine Andre, Tosso Leeb
Summary: Bernese mountain dogs are a large dog breed with a complex genomic architecture due to high levels of inbreeding and relatedness. They are multi-purpose companion and family dogs, but are predisposed to several genetic disorders. The analysis of whole-genome sequencing data revealed limited clustering between European and USA dogs and identified several fixed regions harboring genetic variants associated with morphological traits and diseases. The breed's strong predisposition to hematopoietic cancers may be attributed to the presence of immune cell-regulating genes in shared runs of homozygosity.
Article
Veterinary Sciences
Joana G. P. Jacinto, Leonore Bettina Kuchler, Laureen M. Peters, Elke van der Vekens, Corinne Gurtner, Franz R. Seefried, Mireille Meylan, Cord Drogemuller
Summary: This study describes a case of recessive MOCOS-associated xanthinuria type II in a Brown Swiss calf. The disease manifested as hoof overgrowth, rough coat, urine sediment, and pneumonia, and its genetic etiology was confirmed through genetic testing. Additionally, the prevalence of the deleterious allele in the Brown Swiss population was found to be low.
JOURNAL OF VETERINARY INTERNAL MEDICINE
(2023)
Article
Genetics & Heredity
Rebecca Simon, Sarah Kiener, Nina Thom, Laura Schaefer, Janina Mueller, Elfi K. Schlohsarczyk, Ulrich Gaertner, Christiane Herden, Tosso Leeb, Gesine Luehken
Summary: We studied 4 European domestic shorthair kittens with skin lesions consistent with dermatosparaxis type of Ehlers-Danlos syndrome, a connective tissue disorder. The kittens shared the same father but had 3 different mothers. The kittens had easily torn skin resulting in nonhealing skin wounds. The genome of one affected kitten was sequenced and a frameshift mutation in the ADAMTS2 gene was identified, which is most likely the causative variant for the observed syndrome.
G3-GENES GENOMES GENETICS
(2023)
Article
Biotechnology & Applied Microbiology
Jennifer R. S. Meadows, Jeffrey M. Kidd, Guo-Dong Wang, Heidi G. Parker, Peter Z. Schall, Matteo Bianchi, Matthew J. Christmas, Katia Bougiouri, Reuben M. Buckley, Christophe Hitte, Anthony K. Nguyen, Chao Wang, Vidhya Jagannathan, Julia E. Niskanen, Laurent A. F. Frantz, Meharji Arumilli, Sruthi Hundi, Kerstin Lindblad-Toh, Catarina Ginja, Kadek Karang Agustina, Catherine Andre, Adam R. Boyko, Brian W. Davis, Michaela Droegemueller, Xin-Yao Feng, Konstantinos Gkagkavouzis, Giorgos Iliopoulos, Alexander C. Harris, Marjo K. Hytonen, Daniela C. Kalthoff, Yan-Hu Liu, Petros Lymberakis, Nikolaos Poulakakis, Ana Elisabete Pires, Fernando Racimo, Fabian Ramos-Almodovar, Peter Savolainen, Semina Venetsani, Imke Tammen, Alexandros Triantafyllidis, Bridgett vonHoldt, Robert K. Wayne, Greger Larson, Frank W. Nicholas, Hannes Lohi, Tosso Leeb, Ya-Ping Zhang, Elaine A. Ostrander
Summary: The international Dog10K project aims to sequence and analyze thousands of canine genomes, and has discovered a high percentage of genomic variation across 239 sampled breeds. The project has also identified retrogene insertions from 926 parent genes. These findings are crucial for studying domestication, behavior, morphology, disease susceptibility, and genome architecture and function.
Article
Veterinary Sciences
Faye Rawson, Matthias Christen, Jeremy Rose, Emilie Paran, Tosso Leeb, Angela Fadda
Summary: We clinically and genetically characterized a presumed hereditary and progressive polioencephalopathy in a family of Eurasier dogs. Further research is needed to establish the role of the MECR gene in dogs and the pathogenic effects of the detected variants.
JOURNAL OF VETERINARY INTERNAL MEDICINE
(2023)
Correction
Biotechnology & Applied Microbiology
Jennifer R. S. Meadows, Jefrey M. Kidd, Guo-Dong Wang, Heidi G. Parker, Peter Z. Schall, Matteo Bianchi, Matthew J. Christmas, Katia Bougiouri, Reuben M. Buckley, Christophe Hitte, Anthony K. Nguyen, Chao Wang, Vidhya Jagannathan, Julia E. Niskanen, Laurent A. F. Frantz, Meharji Arumilli, Sruthi Hundi, Kerstin Lindblad-Toh, Catarina Ginja, Kadek Karang Agustina, Catherine Andre, Adam R. Boyko, Brian W. Davis, Michaela Drogemueller, Xin-Yao Feng, Konstantinos Gkagkavouzis, Giorgos Iliopoulos, Alexander C. Harris, Marjo K. Hytonen, Daniela C. Kalthof, Yan-Hu Liu, Petros Lymberakis, Nikolaos Poulakakis, Ana Elisabete Pires, Fernando Racimo, Fabian Ramos-Almodovar, Peter Savolainen, Semina Venetsani, Imke Tammen, Alexandros Triantafyllidis, Bridgett Vonholdt, Robert K. Wayne, Greger Larson, Frank W. Nicholas, Hannes Lohi, Tosso Leeb, Ya-Ping Zhang, Elaine A. Ostrander