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
Niha Peshimam, Hani Farah, Richard Caswell, Sian Ellard, Wajanat Jan, Alistair D. Calder, Jan Cobben, Ujwal Kariholu, Harry G. Leitch
Summary: Sedaghatian type spondylometaphyseal dysplasia (SSMD) is a rare multi-system disorder characterized by skeletal, neurological, and cardiovascular abnormalities. This study reports a new family with two affected siblings and provides a detailed description of the phenotypic features. When shortened long bones are present along with significant brain abnormalities, a diagnosis of SSMD should be considered.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Obstetrics & Gynecology
Fu-Chieh Chu, Ling-Yien Hii, Tai-Ho Hung, Liang-Ming Lo, T'sang-T'ang Hsieh, Steven W. Shaw
Summary: Skeletal dysplasias, caused by genetic mutations, affect bone development during fetal life. A novel de novo mutation in COL2A1 related to Stickler syndrome was identified in a multipara woman, expanding the understanding of the disease spectrum.
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
(2021)
Article
Genetics & Heredity
Tatyana Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Osipova, Tatyana Nagornova, Anna Orlova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev
Summary: This study analyzed the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by COL2A1 gene variants. The results showed that spondyloepiphyseal dysplasias were the predominant clinical forms, both with severe manifestations and mild forms with normal growth. Novel variants were identified in the COL2A1 gene, mainly in the triple helix region with glycine substitution in Gly-XY repeats, which were associated with congenital spondyloepiphyseal dysplasia.
Review
Pediatrics
Francisco Cammarata-Scalisi, Uta Matysiak, Colin E. Willoughby, Gunda Ruzaike, Antonio Cardenas Tadich, Maykol Araya Castillo, Carmen Zara-Chirinos, Ana Bracho, Andrea Avendano, Houweyda Jilani, Michele Callea
Summary: Spondylometaphyseal dysplasia Algerian type is a rare skeletal dysplasia caused by mutations in the COL2A1 gene. A 5-year-old boy with short stature, severe scoliosis, and other skeletal abnormalities was reported in this case review.
JOURNAL OF PEDIATRIC GENETICS
(2021)
Article
Endocrinology & Metabolism
Ting Zhang, Xueping Sun, Mei Li, Huan Huang
Summary: This study identified a novel mutation in COL2A1 related to lethal skeletal dysplasia and expanded the mutation spectrum of type II collagenopathies. By utilizing zebrafish models and assisted reproduction technology, a child free of genetic disease similar to the proband was successfully born, offering a new strategy for patients with variants of unknown significance.
Article
Biochemistry & Molecular Biology
Antonella Roveri, Flavio Di Giacinto, Monica Rossetto, Giorgio Cozza, Qing Cheng, Giovanni Miotto, Lucio Zennaro, Maria Luisa Di Paolo, Elias S. J. Arner, Marco De Spirito, Matilde Maiorino, Fulvio Ursini
Summary: The aim of this study was to investigate the functional role of the Arg152 residue in GPX4, and its mutation to His in SSMD. The mutation did not affect the catalytic mechanism of the enzyme, but showed a different response to the concentration of enzyme and membrane cardiolipin compared to the wild-type enzyme. The findings suggest that GPX4 in cardiolipin containing mitochondria is unique and may be involved in the pathology of SSMD.
Article
Genetics & Heredity
Rosario Ramos-Mejia, Karen E. Heath, Silvia Modamio-Hoybjor, Victoria Huckstadt, Julian Calcagni, Rodrigo Remondino, Virginia Fano
Summary: Autosomal dominant spondylometaphyseal dysplasia Sutcliff type or corner fracture type FN1-related is a rare genetic disorder characterized by skeletal abnormalities resembling fractures, developmental coxa vara, and vertebral changes. This paper reports the first case of SMD-CF FN1-related accompanied by odontoid anomalies.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Katharine Edgerley, Angela Barnicoat, Amaka C. Offiah, Alistair D. Calder, Kshitij Mankad, Nicholas Simon Thomas, David J. Bunyan, Maggie Williams, Chris Buxton, Arniban Majumdar, Kayal Vijayakumar, Tom Hilliard, James Turner, Christine P. Burren, Fergal Monsell, Sarah F. Smithson
Summary: SMD-H is a rare condition that combines spondylometaphyseal dysplasia with hypomyelinating leukodystrophy, recently linked to specific variants in AIFM1. The cases of two affected boys provide further insights into the natural history of this condition.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Giglio, Rodolfo Iuliano
Summary: A novel splicing variant of COL2A1 was reported in a fetus with ACG2, suggesting the potential relevance of in-frame deletions in determining the phenotype of skeletal dysplasia. Future research should focus on the significance of in-frame deletions in the context of skeletal dysplasia.
Article
Genetics & Heredity
Zeng Zhang, Kechao Zhu, Huiyong Dai, Qi Wang, Changqing Zhang, Zhenlin Zhang
Summary: ANFH is a debilitating bone disease linked to mutations in the COL2A1 gene. The study provides important clues for the phenotype-genotype relationships in familial ANFH.
BMC MEDICAL GENOMICS
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Peter Beighton, Filip M. M. Vanhoenacker
Summary: This history page is about the achievements of Kazimierz Kozlowski, a Polish radiologist who is known for the Kozlowski type of spondylometaphyseal dysplasia.
SEMINARS IN MUSCULOSKELETAL RADIOLOGY
(2023)
Article
Medical Laboratory Technology
Tangjun Zhou, Xiao Yang, Zhiqian Chen, Yifan Zhou, Xiankun Cao, Changqing Zhao, Jie Zhao
Summary: This study reported the first discovery of a COL2A1 gene mutation (c.2437G>A; p. Gly813Arg) causing spondyloepiphyseal dysplasia congenita in a Chinese patient. The patient exhibited typical SEDC symptoms, while no same gene mutation or symptoms were observed in his family members.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Genetics & Heredity
Gozde Tutku Turgut, Cagri Gulec, Tugba Sarac Sivrikoz, Hamdi Kale, Birsen Karaman, Gen Nishimura, Umut Altunoglu
Summary: Pathogenic variants in the LBR gene result in different phenotypes, including Pelger-Huet anomaly and spondylometaphyseal dysplasia. Our report presents the first case of LBR-R-SMD in the fetal period, with milder skeletal findings in the affected father. The identification of the specific mutation associated with these conditions suggests the potential for early diagnosis and genetic counseling in affected pregnancies.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Atsuhiko Handa, Giedre Grigelioniene, Gen Nishimura
Summary: Type II collagenopathies are skeletal dysplasias caused by pathogenic variants in the COL2A1 gene, with associated vitreoretinal and hearing impairments. Radiologically, they can be divided into the SEDC and Kniest-Stickler groups.
Article
Genetics & Heredity
Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Woedl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F. J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyna Chrzanowska, Yoyo W. Y. Chu, Brain H. Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R. Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hulya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W. Laulund, Damien Lederer, Melissa Lees, Vanesa Lopez-Gonzalez, Saskia Maas, Grazia M. S. Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N. M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Monica Rosello, Claudia A. L. Ruivenkamp, Mahmut S. Sagiroglu, Suzanne C. E. H. Sallevelt, Amparo Sanchis Calvo, Pelin O. Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P. A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyup Uctepe, G. Eda Utine, Hermine E. Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T. Vulto-van Silfhout, Patricia Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B. A. de Vries, Jill Clayton-Smith, Gijs W. E. Santen
GENETICS IN MEDICINE
(2019)
Article
Genetics & Heredity
Nehir Edibe Kurtas, Luciano Xumerle, Lorena Leonardelli, Massimo Delledonne, Alfredo Brusco, Krystyna Chrzanowska, Albert Schinzel, Daniela Larizza, Silvana Guerneri, Federica Natacci, Maria Clara Bonaglia, Paolo Reho, Emmanouil Manolakos, Teresa Mattina, Fiorenza Soli, Aldesia Provenzano, Ahmed H. Al-Rikabi, Edoardo Errichiello, Lusine Nazaryan-Petersen, Sabrina Giglio, Niels Tommerup, Thomas Liehr, Orsetta Zuffardi
Article
Genetics & Heredity
Victor Murcia Pienkowski, Marzena Kucharczyk, Marlena Mlynek, Krzysztof Szczaluba, Malgorzata Rydzanicz, Barbara Poszewiecka, Agata Skorka, Maciej Sykulski, Anna Biernacka, Agnieszka Anna Koppolu, Renata Posmyk, Anna Walczak, Joanna Kosinska, Pawel Krajewski, Jennifer Castaneda, Ewa Obersztyn, Elzbieta Jurkiewicz, Robert Smigiel, Anna Gambin, Krystyna Chrzanowska, Malgorzata Krajewska-Walasek, Rafal Ploski
JOURNAL OF MEDICAL GENETICS
(2019)
Article
Cell Biology
Dorota Piekutowska-Abramczuk, Magdalena Kaliszewska, Anna Sulek, Natalia Jurkowska, Mariusz Oltarzewski, Ewa Jablonska, Joanna Trubicka, Aleksandra Glowacka, Elzbieta Ciara, Pawel Kowalski, Karolina Langiewicz-Wojciechowska, Marketa Tesarova, Jiri Zeman, Biruta Kierdaszuk, Dariusz Kuczynski, Dariusz Chmielewski, Edyta Szymanska, Agnieszka Bakula, Anna Lusakowska, Marta Lipowska, Bogdan Brodacki, Joanna Pera, Malgorzata Dorobek, Malgorzata Rydzanicz, Rafal Ploski, Krystyna Halina Chrzanowska, Ewa Bartnik, Grzegorz Placha, Anna Kaminska, Anna Kostera-Pruszczyk, Malgorzata Krajewska-Walasek, Katarzyna Tonska, Ewa Pronicka
Article
Cell & Tissue Engineering
Soraia Martins, Martina Bohndorf, Nina Graffmann, Wasco Wruck, Krystyna H. Chrzanowska, James Adjaye
STEM CELL RESEARCH
(2019)
Article
Pediatrics
Dorota Wicher, Irena Jankowska, Patryk Lipinski, Pauline Szymanska-Rozek, Jakub Kmiotek, Wojciech Janczyk, Jacek Rubik, Krystyna Chrzanowska, Piotr Socha
FRONTIERS IN PEDIATRICS
(2019)
Article
Genetics & Heredity
Marie Shaw, Anna Winczewska-Wiktor, Magdalena Badura-Stronka, Sunita Koirala, Alison Gardner, Lukasz Kuszel, Piotr Kowal, Barbara Steinborn, Monika Starczewska, Sarah Garry, Ingrid E. Scheffer, Samuel F. Berkovic, Jozef Gecz
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2020)
Article
Genetics & Heredity
Anna M. Tracewska, Beata Kocyla-Karczmarewicz, Agnieszka Rafalska, Joanna Murawska, Joanna Jakubaszko-Jablonska, Malgorzata Rydzanicz, Piotr Stawinski, Elzbieta Ciara, Muhammad Imran Khan, Arjen Henkes, Alexander Hoischen, Christian Gilissen, Maartje van de Vorst, Frans P. M. Cremers, Rafal Ploski, Krystyna H. Chrzanowska
Article
Genetics & Heredity
Dorota Jurkiewicz, Agata Skorka, Elzbieta Ciara, Monika Kugaudo, Magdalena Pelc, Krystyna Chrzanowska, Malgorzata Krajewska-Walasek
CLINICAL DYSMORPHOLOGY
(2020)
Article
Orthopedics
Krzysztof Malecki, Kryspin Niedzielski, Pawel Flont, Anna Fabis-Strobin, Jaroslaw Fabis
Summary: This prospective study evaluated the isokinetic performance of quadriceps before and after MPFL reconstruction in patients with recurrent patellar dislocation. It found that an increase in quadriceps muscle strength in the healthy limb led to persistent muscle isokinetic imbalance after MPFL reconstruction.
JOURNAL OF KNEE SURGERY
(2021)
Article
Immunology
Dagny Lorent, Rafal Nowak, Carolina Roxo, Elzbieta Lenartowicz, Aleksandra Makarewicz, Bartosz Zaremba, Szymon Nowak, Lukasz Kuszel, Jerzy Stefaniak, Ryszard Kierzek, Pawel Zmora
Summary: Poland reported a relatively low number of confirmed COVID-19 cases in the early months of the pandemic compared to other European countries. A serosurvey conducted after the first wave of COVID-19 in Europe found that 1.67% of the Poznan metropolitan area's population had antibodies against SARS-CoV-2, with a decrease in seroprevalence to 0.93%. Age, occupation with constant contact, travel, non-compliance with recommendations, and direct contact with the virus were associated with positive antibody results.
Article
Genetics & Heredity
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Socha, Lukasz Kuszel, Anna Sowinska-Seidler, Bartlomiej Budny, Ewelina Bukowska-Olech, Magdalena Pilas-Pomykalska, Aleksander Jamsheer, Maciej R. Krawczynski
Summary: Aniridia is often caused by pathogenic variants in the PAX6 gene, but in some cases, it may result from chromosomal rearrangements. This study identified a novel homozygous deletion in the DCDC1 gene, not involving the PAX6 gene, in a patient with isolated aniridia born to consanguineous parents. This is the first reported case of such a deletion downstream of the PAX6 gene.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Clinical Neurology
Magdalena Badura-Stronka, Lukasz Kuszel, Agnieszka Wencel-Warot, Kamila Cudnoch, Katarzyna Wolynska, Karolina Rutkowska, Barbara Steinborn, Rafal Ploski
Summary: This article reports on a family affected by epilepsy, where a variant in the SV2A gene was identified. The findings further support the role of the SV2A gene in autosomal dominant epilepsy.
Article
Immunology
Dagny Lorent, Rafal Nowak, Monika Jankowska, Lukasz Kuszel, Pawel Zmora
Summary: Children are efficient carriers of respiratory viruses, including emerging variants of SARS-CoV-2. Vaccinating individuals who have close contact with children, such as teachers, is crucial. This study compared the antibody responses of teachers vaccinated with mRNA and vector vaccines and evaluated their effectiveness against COVID-19.
Review
Biotechnology & Applied Microbiology
Magdalena Frydrychowicz, Lukasz Kuszel, Grzegorz Dworacki, Joanna Budna-Tukan
Summary: Lung cancer is the leading cause of cancer-related deaths worldwide. Late-stage diagnosis contributes to poor prognosis and high mortality. Finding new biomarkers, particularly miRNA expression, is essential for predicting outcomes and maximizing treatment effectiveness. Liquid biopsy, specifically circulating tumor nucleic acids, is a promising non-invasive method for this purpose.
JOURNAL OF APPLIED GENETICS
(2023)