Article
Genetics & Heredity
Ebba Alkhunaizi, Nicole Martin, Angie C. Jelin, Mara Rosner, Diana J. Bailey, Laurie A. Steiner, Saquib Lakhani, Weizhen Ji, Philip J. Katzman, Katherine R. Forster, Olga Jarinova, Patrick Shannon, David Chitayat
Summary: Arthrogryposis multiplex congenita (AMC) is a heterogeneous condition with a estimated incidence of 1 in 3000 live births, which can be acquired or caused by genetic disorders affecting various body systems. Molecular diagnosis plays a crucial role in prognosis, recurrence risk assessment, and reproductive options.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Review
Pediatrics
Catalina E. Garcia Aguilar, Cristina Garcia-Munoz, Ines Carmona-Barrientos, Maria Jesus Vinolo-Gil, Francisco Javier Martin-Vega, Gloria Gonzalez-Medina
Summary: Arthrogryposis multiplex congenita is a condition characterized by contractures and deformity in two or more body areas. Physiotherapy may be an appropriate treatment. This systematic review aimed to evaluate the evidence for rehabilitation in arthrogryposis multiplex congenita. Fourteen studies were included, and the main conflicts in methodological quality were found in the reporting of participant characteristics and experimental interventions. Rehabilitation provides satisfactory results in the treatment of arthrogryposis multiplex congenita, but more scientific research and randomized clinical trials are needed for further validation.
Article
Pediatrics
Dongmei Liu, Jiali Yu, Xin Wang, Yang Yang, Li Yu, Shi Zeng, Ming Zhang, Ganqiong Xu
Summary: This study reports a case of fetal nemaline myopathy (NM) caused by a KLHL40 gene variation, resulting in arthrogryposis multiplex congenita (AMC). Ultrasonography and histopathological results showed enhanced echo intensity and decreased muscle thickness, providing early clues for prenatal diagnosis of NM. Additionally, this article is the first to describe a case of NM associated with complex congenital heart disease (CHD).
FRONTIERS IN PEDIATRICS
(2022)
Review
Genetics & Heredity
My Vuong Hermansen, Lena Lande Wekre, Ingeborg B. Lidal
Summary: This scoping review examines the definition and knowledge of arthrogryposis multiplex congenita (AMC) and identifies research gaps and future directions. The majority of published articles focused on cross-sectional or retrospective studies of children and young people, mainly in the field of orthopedic management. Explicit definitions of AMC were provided in 86% of the cases. Future research should address gaps related to adults, aging, etiology, new medical treatments, and the impact on daily life.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Neurosciences
Daniel G. Booth, Nina Kozar, Stephen Bradley, Dies Meijer
Summary: Disruption of axon-glia interactions in the peripheral nervous system is a major cause of arthrogryposis multiplex congenita (AMC), with LGI4 and ADAM22 being genes implicated in the condition. Mutations in LGI4 may result in reduced secretion of the protein, but do not appear to affect its binding to ADAM22 or its myelination-promoting function.
Article
Pediatrics
Naglaa M. Kamal, AlaaEddin M. Alzeky, Maher R. Omair, Ruwayd A. Attar, Abdullah M. Alotaibi, Abdullah Safar, Nawal S. Alosaimi, Sara A. S. Abosabie
Summary: This study reports a case of AMC-3, characterized by severe hypotonia, club feet, and multiple joint contractures. Whole-exome sequencing identified a novel homozygous variant in the SYNE1 gene, which was proven to be significant and inherited in an autosomal recessive pattern.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
Article
Genetics & Heredity
Shirromi Sarveswaran, William Ben Mortenson, Bonita Sawatzky
Summary: This study investigated the incidence of depression in adults with arthrogryposis multiplex congenita (AMC) and identified variables independently associated with depression. The results showed that 19% of the adults with AMC had some signs of depression, similar to the general adult population in the United States. In addition to addressing depression, rehabilitation clinicians should also consider interventions to reduce anxiety, fatigue, and environmental barriers.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(2023)
Article
Endocrinology & Metabolism
Emre Sarikaya, Firat Ozcelik, Ulku Gul Siraz, Nihal Hatipoglu, Tamer Gunes, Munis Dundar
Summary: This study presents a detailed description of a patient with arthrogryposis multiplex congenita, as well as the discovery of a novel TOR1A gene mutation. This contributes to enhancing the understanding of the phenotype and genotype spectrum of this rare disease.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2022)
Article
Clinical Neurology
Nicholas M. Allen, Mark O'Rahelly, Bruno Eymard, Mondher Chouchane, Andreas Hahn, Gerry Kearns, Dae-Seong Kim, Shin Yun Byun, Cam-Tu Emilie Nguyen, Ulrike Schara-Schmidt, Heike Koelbel, Adela Della Marina, Christiane Schneider-Gold, Kathryn Roefke, Andrea Thieme, Peter Van den Bergh, Gloria Avalos, Rodrigo Alvarez-Velasco, Daniel Natera-de Benito, Man Hin Mark Cheng, Wing Ki Chan, Hoi Shan Wan, Mary Ann Thomas, Lauren Borch, Julie Lauzon, Cornelia Kornblum, Jens Reimann, Andreas Mueller, Thierry Kuntzer, Fiona Norwood, Sithara Ramdas, Leslie W. Jacobson, Xiaobo Jie, Miguel A. Fernandez-Garcia, Elizabeth Wraige, Ming Lim, Jean Pierre Lin, Kristl G. Claeys, Selma Aktas, Maryam Oskoui, Yael Hacohen, Ameneh Masud, M. Isabel Leite, Jacqueline Palace, Darryl De Vivo, Angela Vincent, Heinz Jungbluth
Summary: Allen et al. found that exposure to maternal antibodies against fetal acetylcholine receptor (fAChR) during pregnancy can result in a wide range of persistent neuromuscular disorders in offspring. Immune-based therapies during pregnancy can prevent these disorders, while oral salbutamol is an effective treatment for the affected children.
Article
Orthopedics
Ahmet Sevencan, Ahmet Akdogan, Hanifi Ucpunar, Osman Nuri Ozyalvac, Evren Akpinar, Avni Ilhan Bayhan
Summary: This study found that the major driving factors for satisfaction after talectomy for AMC were plantigrade foot and absence of forefoot supination. The mean health-related quality of life scores were universally lower in the AMC group than in the control group. Finding comfortable footwear is a major concern for AMC patients.
FOOT & ANKLE INTERNATIONAL
(2022)
Article
Obstetrics & Gynecology
Jill K. Tjon, Maria B. Tan-Sindhunata, Marianna Bugiani, Melinda M. E. H. Witbreuk, Johannes A. van der Sluijs, Marjan M. Weiss, Mirjam M. van Weissenbruch, Laura A. van de Pol, Annemieke Buizer, Margriet H. M. van Doesburg, Petra C. A. M. Bakker, Bloeme J. van der Knoop, Ingeborg H. Linskens, Johanna I. P. de Vries
Summary: This study presents a care pathway for fetal joint contracture disorders, including motor assessment by ultrasound and genetic examinations. The pathway consists of multiple steps aimed at providing comprehensive and parent-friendly care.
FETAL DIAGNOSIS AND THERAPY
(2021)
Article
Medicine, General & Internal
Charlotte Deneufbourg, Armelle Duquenne, Jean-Marc Biard, Yves Sznajer
Summary: Unusual fetal arthrogryposis on ultrasound should prompt a search for additional lower limb anomalies. Precise genetic counseling can be obtained through deletion on Xq11.2 for ZC4H2 gene sequencing diagnostic for Wieacker-Wolff syndrome.
CLINICAL CASE REPORTS
(2021)
Article
Clinical Neurology
Luisa Averdunk, Sandra Donkervoort, Denise Horn, Stephan Waldmuller, Safoora Syeda, Sarah B. Neuhaus, Katherine R. Chao, Anne van Riesen, Darja Gauck, Tobias Haack, Anna S. Japp, Unaa Lee, Carsten G. Bonnemann, Ertan Mayatepek, Felix Distelmaier
Summary: The TTN c.39974-11T > G variant is consistently associated with congenital arthrogryposis and persisting myopathy, indicating its impact on muscle elasticity during early development. A recognizable pattern of muscle involvement has been identified, which provides valuable clues for diagnosis.
Review
Dentistry, Oral Surgery & Medicine
M. Benard, A. Sesque, I. Barthelemy, A. Depeyre
Summary: Arthrogryposis multiplex congenita (AMC) affects joints in various parts of the body, leading to oral dysfunction and restricted mouth opening. Treatment strategies depend on the severity of the impairment, with surgery and physical therapy being potential options for improving quality of life for patients.
JOURNAL OF STOMATOLOGY ORAL AND MAXILLOFACIAL SURGERY
(2021)
Article
Medicine, General & Internal
Vasundhara Tamhankar, Parag Tamhankar, Rajas Chaubal, Jyoti Chaubal, Nitin Chaubal
Summary: Mutations in the THOC2 gene can lead to X-linked mental retardation syndrome, and a recent case study has linked this gene to a severe arthrogryposis multiplex congenita phenotype, expanding the understanding of clinical phenotypes associated with THOC2 gene defects.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Article
Genetics & Heredity
Maria E. Vazquez-Mosquera, Emiliano Gonzalez-Vioque, Sofia Barbosa-Gouveia, Diego Bellido-Guerrero, Cristina Tejera-Perez, Miguel A. Martinez-Olmos, Antia Fernandez-Pombo, Luis A. Castano-Gonzalez, Roi Chans-Gerpe, Maria L. Couce
Summary: Transcriptomic analysis shows diagnostic utility in patients with suspected MODY, even though only some genes exhibit expression alterations in peripheral blood.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Nutrition & Dietetics
Ainara Cano, Carlos Alcalde, Amaya Belanger-Quintana, Elvira Canedo-Villarroya, Leticia Ceberio, Silvia Chumillas-Calzada, Patricia Correcher, Maria Luz Couce, Dolores Garcia-Arenas, Igor Gomez, Tomas Hernandez, Elsa Izquierdo-Garcia, Damaris Martinez Chicano, Montserrat Morales, Consuelo Pedron-Giner, Estrella Petrina Jauregui, Luis Pena-Quintana, Paula Sanchez-Pintos, Juliana Serrano-Nieto, Maria Unceta Suarez, Isidro Vitoria Minana, Javier de las Heras
Summary: The study found that inadequate intake of vitamin C and folate is common in patients with hereditary fructose intolerance (HFI). While supplementation with vitamin C is positively correlated with plasma levels, a significant number of HFI patients who do not receive supplementation still experience vitamin C deficiency. Further research is needed to establish optimal doses of vitamin C and the necessity of folate supplementation in HFI.
EUROPEAN JOURNAL OF CLINICAL NUTRITION
(2022)
Article
Biochemistry & Molecular Biology
Alejandro Soriano-Sexto, Diana Gallego, Fatima Leal, Natalia Castejon-Fernandez, Rosa Navarrete, Patricia Alcaide, Maria L. Couce, Elena Martin-Hernandez, Pilar Quijada-Fraile, Luis Pena-Quintana, Raquel Yahyaoui, Patricia Correcher, Magdalena Ugarte, Pilar Rodriguez-Pombo, Belen Perez
Summary: This study utilized a personalized multi-omics pipeline and functional genomics to aid in the genetic diagnosis of six unsolved cases. Eight novel variants were identified and their pathogenic effects were confirmed. This highlights the importance of combining different omics technologies and functional analysis in solving challenging clinical cases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Alba Segarra-Casas, Cristina Dominguez-Gonzalez, Aurelio Hernandez-Lain, Maria Teresa Sanchez-Calvin, Ana Camacho, Eloy Rivas, Andrea Campo-Barasoain, Marcos Madruga, Carlos Ortez, Daniel Natera-de Benito, Andres Nascimento, Anna Codina, Maria Jose Rodriguez, Pia Gallano, Lidia Gonzalez-Quereda
Summary: In patients with suspected DMD/BMD who remain genetically undiagnosed after routine genetic testing, mRNA analysis of the DMD gene identified alterations in mRNA level, including deep intronic variants and chromosomal rearrangement, as well as exon skipping events of unclear pathogenicity. These findings highlight the value of mRNA analysis in reaching a precise genetic diagnosis for patients with clinical and anatomopathological suspicion of dystrophinopathy that cannot be diagnosed through routine genetic testing.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Medicine, General & Internal
Nestor Vazquez-Agra, Silvia Fernandez-Crespo, Ana -Teresa Marques-Afonso, Anton Cruces-Sande, Sofia Barbosa-Gouveia, Miguel-Angel Martinez-Olmos, Alvaro Hermida-Ameijeiras
Summary: This study evaluated the influence of metabolic control on classical cardiovascular risk factors in adult patients with Phenylketonuria (PKU). The results showed that high phenylalanine levels and fluctuations were associated with weight gain, increased waist circumference, and lipid profile abnormalities. Therefore, systematic cardiovascular risk assessments and comprehensive monitoring of phenylalanine levels may help prevent or delay cardiovascular disease in PKU patients.
Article
Clinical Neurology
Daniel Natera-de Benito, Jonathan Olival, Carla Garcia-Cabau, Cristina Jou, Monica Roldan, Anna Codina, Jessica Exposito-Escudero, Cristina Batlle, Laura Carrera-Garcia, Carlos Ortez, Xavier Salvatella, Francesc Palau, Andres Nascimento, Janet Hoenicka
Summary: A new ANXA11 variant was identified in a patient with severe childhood-onset oculopharyngeal muscular dystrophy. This variant leads to abnormal phase separation and protein aggregation of ANXA11, which affects stress granules dynamics and clearance in fibroblasts. Muscle histopathology confirms the presence of ANXA11 protein aggregates, demonstrating a common pathophysiology for disorders associated with ANXA11 Asp40 allelic variants.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Clinical Neurology
Andres Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, Jose C. Milisenda, Elicia A. Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A. Stafki, Lynn S. Pais, Vijay S. Ganesh, Anne O'Donnell-Luria, Safoora B. Syeda, Laura Carrera-Garcia, Jessica Exposito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G. W. Lidov, Andrew L. Mammen, Josep M. Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S. Ghosh, Basil T. Darras, Cristina Jou, Louis M. Kunkel, Janet Hoenicka, Carsten G. Bonnemann, Peter B. Kang, Daniel Natera-de Benito
Summary: This study found that variants in the DTNA gene are associated with human skeletal muscle disease, leading to symptoms such as muscle weakness, fatigue, and exercise intolerance. The study also demonstrated that these variants disrupt the interaction between alpha-dystrobrevin and syntrophin.
ACTA NEUROPATHOLOGICA
(2023)
Article
Biochemistry & Molecular Biology
Anna Codina, Monica Roldan, Daniel Natera-de Benito, Carlos Ortez, Robert Planas, Leslie Matalonga, Daniel Cuadras, Laura Carrera, Jesica Exposito, Jesus Marquez, Cecilia Jimenez-Mallebrera, Josep M. Porta, Andres Nascimento, Cristina Jou
Summary: We developed a method for quantifying dystrophin in DMD and BMD patients using spectral confocal microscopy. The proposed methodology correctly classified patients according to their diagnosis and automated ROI selection. Spectral imaging could be implemented to measure dystrophin expression and pave the way for detailed analysis of its relation to the clinical course. Further studies could be done to understand the expression of dystrophin-associated protein complexes (DAPCs).
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Maria Justel, Cristina Jou, Andrea Sariego-Jamardo, Natalia Alexandra Julia-Palacios, Carlos Ortez, Maria Luisa Poch, Antonio Hedrera-Fernandez, Hilario Gomez-Martin, Anna Codina, Jana Dominguez-Carral, Jordi Muxart, Aurelio Hernandez-Lain, Sara Vila-Bedmar, Miren Zulaica, Ramon Cancho-Candela, Margarita del Carmen Castro, Alberto de la Osa-langreo, Alfonso Pena-Valenceja, Elena Marcos-Vadillo, Pablo Prieto-Matos, Samuel Ignacio Pascual-Pascual, Adolfo Lopez de Munain, Ana Camacho, Berta Estevez-Arias, Uliana Musokhranova, Mireia Olivella, Alfonso Oyarzabal, Cecilia Jimenez-Mallebrera, Cristina Dominguez-Gonzalez, Andres Nascimento, Angels Garcia-Cazorla, Daniel Natera-de Benito
Summary: This article reports a clinical and histopathological characterization of 25 Roma individuals with LGMD R18 caused by the homozygous TRAPPC11 c.1287+5G>A variant. The variant has functional effects on mitochondrial function, leading to decreased mitochondrial ATP production capacity and alterations in the mitochondrial network architecture. Additionally, microcephaly and clinical decompensation associated with infections are prevalent in individuals with LGMD R18.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Medicine, General & Internal
Sofia Barbosa-Gouveia, Silvia Fernandez-Crespo, Hector Lazare-Iglesias, Arturo Gonzalez-Quintela, Nestor Vazquez-Agra, Alvaro Hermida-Ameijeiras
Summary: In this study, a case of a 59-year-old male patient with typical features of Tangier disease was described, and a likely pathogenic variant in the ABCA1 gene was identified through whole-exome sequencing. Bioinformatics and genomics analysis were used to predict the impact of the variant on the protein structure and function, highlighting the importance of integrating these approaches to understand the genotype-phenotype relationship and functional consequences of genetic variations.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cell Biology
Sergi Cesar, Oscar Campuzano, Jose Cruzalegui, Victori Fiol, Isaac Moll, Estefania Martinez-Barrios, Irene Zschaeck, Daniel Natera-de Benito, Carlos Ortez, Laura Carrera, Jessica Exposito, Ruben Berrueco, Carles Bautista-Rodriguez, Ivana Dabaj, Marta Gomez Garcia-de-la-Banda, Susana Quijano-Roy, Josep Brugada, Andres Nascimento, Georgia Sarquella-Brugada
Summary: LMNA-related muscular dystrophy is a rare condition that can lead to various laminopathies such as Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD). It is associated with heart failure, malignant arrhythmias, and sudden death. This study aimed to comprehensively evaluate the cardiac status of pediatric patients with LMNA-related muscular dystrophy. The results showed that 20% of the patients had malignant arrhythmias, and early-onset EDMD was associated with worse cardiac prognosis.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Correction
Nutrition & Dietetics
Ainara Cano, Carlos Alcalde, Amaya Belanger-Quintana, Elvira Canedo-Villarroya, Leticia Ceberio, Silvia Chumillas-Calzada, Patricia Correcher, Maria Luz Couce, Dolores Garcia-Arenas, Igor Gomez, Tomas Hernandez, Elsa Izquierdo-Garcia, Damaris Martinez Chicano, Montserrat Morales, Consuelo Pedron-Giner, Estrella Petrina Jauregui, Luis Pena-Quintana, Paula Sanchez-Pintos, Juliana Serrano-Nieto, Maria Unceta Suarez, Isidro Vitoria Minana, Javier de las Heras
EUROPEAN JOURNAL OF CLINICAL NUTRITION
(2023)
Article
Nutrition & Dietetics
Isidro Vitoria-Minana, Maria-Luz Couce, Domingo Gonzalez-Lamuno, Monica Garcia-Peris, Patricia Correcher-Medina
Summary: This study designed a spreadsheet to calculate the required amounts of a special amino acid formula and human milk for infants with inborn errors of metabolism of amino acids and proteins. The spreadsheet takes into consideration the infant's metabolic status and individual requirements, and can also calculate the necessary volume of expressed milk in certain conditions.
Article
Endocrinology & Metabolism
Silvia Santos Monteiro, Tiago da Silva Santos, Liliana Fonseca, Guilherme Assuncao, Ana M. Lopes, Diana B. Duarte, Ana Rita Soares, Francisco Laranjeira, Isaura Ribeiro, Eugenia Pinto, Sonia Rocha, Sofia Barbosa Gouveia, Maria Eugenia Vazquez-Mosquera, Maria Joao Oliveira, Teresa Borges, Maria Helena Cardoso
Summary: This study describes a Portuguese cohort of individuals with suspected monogenic diabetes who underwent genetic testing for MODY-causing genes. The results emphasize the importance of genetic testing in the diagnosis of MODY and the establishment of personalized treatment and follow-up strategies.
ACTA DIABETOLOGICA
(2023)