Article
Genetics & Heredity
Tim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, Go-Hun Seo, Duangrurdee Wattanasirichaigoon
Summary: The study reported a 5-year-old girl with intellectual disability linked to OTUD6B and ZMIZ1 genes, displaying facial phenotypes resembling Williams syndrome, as well as cardiac defects and limb anomalies. Whole exome sequencing and cytogenomic microarray analyses revealed a paternally inherited OTUD6B deletion and a ZMIZ1 variant in the patient and her father. This case expands the understanding of the genotypic spectrum of OTUD6B- and ZMIZ1-related disorders, highlighting unique presentations such as Williams syndrome-like phenotypes.
Article
Genetics & Heredity
Rossana Sanchez Russo, Michael J. Gambello, Melissa M. Murphy, Katrina Aberizk, Emily Black, T. Lindsey Burrell, Grace Carlock, Joseph F. Cubells, Michael T. Epstein, Roberto Espana, Katrina Goines, Ryan M. Guest, Cheryl Klaiman, Sookyong Koh, Elizabeth J. Leslie, Longchuan Li, Derek M. Novacek, Celine A. Saulnier, Esra Sefik, Sarah Shultz, Elaine Walker, Stormi Pulver White, Jennifer Gladys Mulle
Summary: The study aims to understand the consequences of 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological outcomes. Common features of the syndrome include a high burden of neurodevelopmental and neuropsychiatric phenotypes. Evidence-based recommendations for evaluation, referral, and management are provided to guide clinicians in caring for 3q29 deletion patients.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Zaimary Meneses, Jenna Durant, Hanadys Ale
Summary: The article introduces the first 22q11.2 multidisciplinary program in Florida, highlighting the clinic's diverse patient population, team of bilingual providers, and expansion to care for adult 22q patients.
Article
Medicine, Research & Experimental
Meihua Li, Linlin Liu, Yijun Wu, Jian Guan
Summary: Copy number variations (CNVs) in chromosome 16p11.2, including deletions and duplications, are not rare and are known to be a common genetic cause of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. This study reports a case of prenatal diagnosis and genetic counseling of a maternally inherited 16p11.2 microdeletion.
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
(2022)
Article
Multidisciplinary Sciences
Li Lai, Xiao-li Huang, Duan-rong Mei, Yao Li, Yi-chen Wu
Summary: In recent years, abnormalities in DNA genotypes caused by chromosomal abnormalities have been found in individual identification and sex-typing analysis. This case report discusses a 17-year-old female with Turner syndrome who was misgendered as male due to the presence of amelogenin Y allele. Further examination revealed chromosomal deletion and the microdeletion of the azoospermia factor (AZF)b + c region. Accurate sex typing of individuals with chromosomal abnormalities remains a challenge in forensics, and various medical evaluations are necessary to overcome the issues.
Article
Microbiology
Jiro F. Mori, Robert A. Kanaly
Summary: The study reveals the existence of a unique chromosomal fusion phenomenon in a specific group of Burkholderiaceae bacteria, where a naturally fused chromosome and chromid were formed through intragenomic homologous recombination between repeated rRNA operons. This finding provides insight into the potential of multiple rRNA operons in prokaryotes.
MICROBIOLOGY SPECTRUM
(2022)
Article
Biochemistry & Molecular Biology
Timothy P. Rutkowski, Ryan H. Purcell, Rebecca M. Pollak, Stephanie M. Grewenow, Georgette M. Gafford, Tamika Malone, Uswa A. Khan, Jason P. Schroeder, Michael P. Epstein, Gary J. Bassell, Stephen T. Warren, David Weinshenker, Tamara Caspary, Jennifer Gladys Mulle
Summary: The 3q29 deletion increases the risk for various neuropsychiatric phenotypes, and the experimental deletion in mice revealed behavioral impairments in multiple domains, with potential sex-dependent effects. The study also found that mouse-specific behavioral phenotypes associated with the 3q29 deletion are not solely due to haploinsufficiency of Dlg1.
MOLECULAR PSYCHIATRY
(2021)
Article
Microbiology
Haiyan Ren, Anqi Yin, Pingping Wu, Huanyu Zhou, Jungang Zhou, Yao Yu, Hong Lu
Summary: In this study, the positions and sequences of centromeres in Kluyveromyces marxianus were determined for the first time, and a Cre-loxP system was successfully established in this species. A K. marxianus strain containing 16 loxPsym sites was constructed, and large-scale chromosomal rearrangements were achieved with a high recombination frequency. These findings provide valuable information and tools for studying chromosomal structures and functions in K. marxianus.
Article
Biochemistry & Molecular Biology
Maria Akopyan, Anna Tigano, Arne Jacobs, Aryn P. Wilder, Hannes Baumann, Nina O. Therkildsen
Summary: The study compares the recombination landscape and genome collinearity between two populations of Atlantic silverside. It finds higher recombination rates in females than males and restricted recombination to only the terminal ends of male chromosomes. Additionally, massive chromosomal inversions suppress recombination and coincide with highly differentiated genomic regions between locally adapted populations. Furthermore, the study identifies significantly higher recombination rates on chromosomes in the northern population.
Article
Multidisciplinary Sciences
AbdulKarim El Karaaoui, Ghina Ghazeeri, Nada Assaf
Summary: A young woman with repeated conception failure was found to have an unbalanced complex chromosomal rearrangement involving a large duplication overlapping the 8p23.1 duplication syndrome region. This highlights the importance of genetic testing in infertile patients displaying a normal phenotype. Rating: 7 out of 10.
Article
Oncology
Golrokh Mirzaei
Summary: This study explores the use of chromosomal rearrangements for cancer classification and highlights the significance of interchromosomal rearrangements in cancer prediction. The findings suggest that interchromosomal rearrangements are more effective than intrachromosomal rearrangements for cancer prediction.
Article
Genetics & Heredity
Carolina Gama Nascimento, Joana Rosa Marques Prota, Ilaria Cristina Sgardioli, Samira Spineli-Silva, Nilma Lucia Viguetti Campos, Vera Lucia Gil-da-Silva-Lopes, Tarsis Paiva Vieira
Summary: Insertions are rare balanced chromosomal rearrangements with an increased risk of imbalances for the offspring. Balanced rearrangements in individuals with abnormal phenotypes may be associated to the phenotype by different mechanisms. This study describes a three-generation family with a rare chromosomal insertion. G-banded karyotype, chromosomal microarray analysis (CMA), whole-exome sequencing (WES), and low-pass whole-genome sequencing (WGS) were performed. Clinical features associated with the rare 15q21.1-q22.31 duplication are described, reinforcing the importance of searching for other genetic causes in individuals with inherited balanced chromosomal rearrangements and abnormal phenotypes.
Article
Pathology
Elena Gerhard-Hartmann, Christian Vokuhl, Sabine Roth, Tabea Steinmueller, Mathias Rosenfeldt, Alberto Zamo, Andreas Rosenwald, Silke Appenzeller, Karen Ernestus, Katja Maurus
Summary: Lipoblastoma is a rare benign mesenchymal tumor with a broad histological spectrum, posing challenges for diagnosis and differential diagnosis, but modern molecular diagnostic methods play an important role in supportive diagnosis. PLAG1 gene rearrangements are characteristic alterations in this tumor.
PATHOLOGY RESEARCH AND PRACTICE
(2021)
Article
Genetics & Heredity
Rebecca E. Brereton, Sarah L. Nickerson, Karen J. Woodward, Tracey Edwards, Soruba Sivamoorthy, Fabiana Ramos Vasques Walters, Vicki Chabros, Vanessa Marchin, Tanya Grumball, Dagmara Kennedy, Joan Uzaraga, Joanne Peverall, Gillian Arscott, John Beilby, Catherine S. Choong, Sharron Townshend, Dimitar N. Azmanov
Summary: Silver-Russell syndrome (SRS) is a rare genetic condition characterized by growth restriction and facial dysmorphisms, with a complex and diverse genetic background involving various gene variants and chromosomal rearrangements. A familial study identified a PLAG1 gene deletion associated with complex chromosomal rearrangement, highlighting the expanding heterogeneity of SRS.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Medical Laboratory Technology
Jikyo Lee, Sung Min Kim, Soonok Kim, Jiwon Yun, Dajeong Jeong, Young Eun Lee, Eun-Youn Roh, Dong Soon Lee
Summary: This study investigated the clinical and genomic profiles of patients with t(3;21) translocation in the past 10 years. The frequency of t(3;21) in myeloid malignancies was very low and most of the patients had a history of cancer treatment. Somatic variants were detected in these patients, but no germline predisposition mutations for myeloid neoplasms were found. Compared to other AML patients in Korea, the survival rate of patients with t(3;21) was not poor.
ANNALS OF LABORATORY MEDICINE
(2022)
Article
Virology
Carolina E. Vaisman, Oscar Del Moral-Hernandez, Samadhi Moreno-Campuzano, Elena Arechaga-Ocarnpo, Raul Bonilla-Moreno, Israel Garcia-Aguiar, Leticia Cedillo-Barron, Jaime Berumen, Porfirio Nava, Nicolas Villegas-Sepulveda
Article
Oncology
Macario Martinez-Castillo, Nicolas Villegas-Sepulveda, Marco A. Meraz-Rios, Araceli Hernandez-Zavala, Jaime Berumen, Mathew A. Coleman, Lorena Orozco, Emilio J. Cordova
Article
Respiratory System
Everardo Hernandez-Plata, Ana Claudia Velazquez-Wong, Carmina Jimenez-Ramirez, Fernando Fernandez-Ramirez, Luz Maria Galicia-Sanchez, Cesar Antonio Flores-Garcia, Jose Manuel Hernandez-Hernandez, Haydee Rosas-Vargas, Juan Carlos Huicochea-Montiel, Eliseo Espinosa-Poblano
CLINICAL RESPIRATORY JOURNAL
(2019)
Article
Clinical Neurology
Carlos Alberto Serrano-Juarez, Carlos Alberto Venegas-Vega, Ma. Guillermina Yanez-Tellez, Mario Rodriguez-Camacho, Juan Silva-Pereyra, Hermelinda Salgado-Ceballos, Belen Prieto-Corona
JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
(2018)
Article
Food Science & Technology
Omar Sepulveda-Robles, Bertha Espinoza-Gutierrez, Juan C. Gomez-Verjan, Silvia Laura Guzman-Gutierrez, Marlon De Ita, Mayra Silva-Miranda, Clara Ines Espitia-Pinzon, Fernando Fernandez-Ramirez, Alma Herrera-Salazar, Minerva Mata-Rocha, Alfredo Ortega-Hernandez, Ricardo Reyes-Chilpa
FOOD AND CHEMICAL TOXICOLOGY
(2019)
Article
Multidisciplinary Sciences
Jaime Berumen, Lorena Orozco, Miguel Betancourt-Cravioto, Hector Gallardo, Mirella Zulueta, Leire Mendizabal, Laureano Simon, Rosa Elba Benuto, Elisa Ramirez-Campos, Melissa Marin, Eligia Juarez, Humberto Garcia-Ortiz, Angelica Martinez-Hernandez, Carlos Venegas-Vega, Jesus Peralta-Romero, Miguel Cruz, Roberto Tapia-Conyer
SCIENTIFIC REPORTS
(2019)
Article
Urology & Nephrology
Miriam E. Reyna-Fabian, Miguel A. Alcantara-Ortigoza, Nancy L. Hernandez-Martinez, Jaime Berumen, Raquel Jimenez-Garcia, Gilberto Gomez-Garza, Ariadna Gonzalez-del Angel
Article
Genetics & Heredity
Jair Tenorio, Julian Nevado, Antonio Gonzalez-Meneses, Pedro Arias, Irene Dapia, Carlos A. Venegas-Vega, Maria Calvente, Alicia Hernandez, Leandro Landera, Sergio Ramos, Juan Cruz Cigudosa, Luis A. Perez-Jurado, Pablo Lapunzina
Article
Genetics & Heredity
Veronica Fabiola Moran-Barroso, Alicia Cervantes, Maria del Refugio Rivera-Vega, Adriana del Castillo-Moreno, Alejandra Moreno-Chacon, Estefania Mejia-Cauich, Laura Erendira Contreras-Ortiz, Fernando Fernandez-Ramirez
Summary: The patient presents a wide range of clinical manifestations mainly due to proximal trisomy 13q, with the phenotype modified by the presence of a free trisomy 13 cell line. It is proposed that the mosaicism in the patient may have originated from a trisomic zygote that underwent a failed trisomic rescue associated with chromothripsis, resulting in the cell line with partial 13q proximal trisomy, which could explain the long-term survival of the patient.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Endocrinology & Metabolism
Jaime Berumen, Lorena Orozco, Hector Gallardo-Rincon, Fernando Rivas, Elizabeth Barrera, Rosa E. Benuto, Humberto Garcia-Ortiz, Melissa Marin-Medina, Eligia Juarez-Torres, Anabel Alvarado-Silva, Espiridion Ramos-Martinez, Luis Alberto Martinez-Juarez, Julieta Lomelin-Gascon, Alejandra Montoya, Janinne Ortega-Montiel, Diego-Abelardo Alvarez-Hernandez, Jorge Larriva-Shad, Roberto Tapia-Conyer
Summary: This study explored the influence of sex and age at type 2 diabetes (T2D) diagnosis on T2D-related genes, parental history of T2D, and obesity on T2D development. The findings suggest that T2D-related genes, maternal T2D history, and fat distribution have a greater impact on T2D development in males than females.
BIOLOGY OF SEX DIFFERENCES
(2023)
Article
Endocrinology & Metabolism
Fiona Bragg, Pablo Kuri-Morales, Jaime Berumen, Adrian Garcilazo-Avila, Carlos Gonzales-Carballo, Raul Ramirez-Reyes, Rogelio Santacruz-Benitez, Diego Aguilar-Ramirez, Louisa Gnatiuc Friedrichs, William G. Herrington, Michael Hill, Eirini Trichia, Rachel Wade, Rory Collins, Richard Peto, Jonathan R. Emberson, Jesus Alegre-Diaz, Roberto Tapia-Conyer
Summary: This study aimed to assess the association between diabetes and the risk of death from infection in Mexico. The results showed a strong link between diabetes and death from infection, particularly in cases of urinary tract infections, skin, bone and connective tissue infections, and septicemia. Furthermore, longer duration of diabetes and higher HbA1c levels were independently associated with an increased risk of death from infection.
BMJ OPEN DIABETES RESEARCH & CARE
(2023)
Article
Endocrinology & Metabolism
J. Berumen, L. Orozco, H. Gallardo-Rincon, E. Juarez-Torres, E. Barrera, M. Cruz-Lopez, R. E. Benuto, E. Ramos-Martinez, M. Marin-Madina, A. Alvarado-Silva, A. Valladares-Salgado, J. J. Peralta-Romero, H. Garcia-Ortiz, L. A. Martinez-Juarez, A. Montoya, D. A. Alvarez-Hernandez, J. Alegre-Diaz, P. Kuri-Morales, R. Tapia-Conyer
Summary: The study revealed associations between TH01 microsatellite and rs689 allele with type 2 diabetes development in a Mexican population. Specific TH01 alleles and rs689 allele A were independently associated with T2D, with differences in risk for males and females based on age at diagnosis. Larger TH01 alleles and rs689 A allele may impact insulin synthesis differently in males with and without T2D.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Psychology, Developmental
Carlos Alberto Serrano-Juarez, Belen Prieto-Corona, Mario Rodriguez-Camacho, Carlos Alberto Venegas-Vega, Ma Guillermina Yanez-Tellez, Juan Silva-Pereyra, Hermelinda Salgado-Ceballos, Natalia Arias-Trejo, Miguel Angel De Leon Miranda
Summary: This study explored social cognition in children with Williams syndrome with different genotypes, finding that participants retaining certain genes performed better on social judgment tasks. The results suggest an influence of the GTF2I gene family on social cognition in Williams syndrome.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Article
Clinical Neurology
Diana Elena Guzman-Jimenez, Jaime Berumen Campos, Carlos Alberto Venegas-Vega, Mariana Alejandre Sanchez, Ana Luisa Velasco
