Article
Genetics & Heredity
Renata M. Noronha, Sandra M. F. Villares, Natalia Torres, Elisangela P. S. Quedas, Thais Kataoka Homma, Edoarda V. A. Albuquerque, Michelle B. Moraes, Mariana F. A. Funari, Debora R. Bertola, Alexander A. L. Jorge, Alexsandra C. Malaquias
Summary: The study characterized glucose and lipid profiles in patients with Noonan syndrome (NS) and NS related disorders (NRD), finding that despite a lean phenotype, these patients have an unfavorable metabolic profile with low HDL, elevated TGs, and glucose metabolism impairment.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Computer Science, Software Engineering
Emma Adolfsson, Jon Jonasson, Aniruddh Kashyap, Anna Nordenskold, Anna Green
Summary: We developed an efficient approach for copy number analysis in targeted gene panel or whole exome sequence data. Our new tool CNV-Z detects copy number variants with high specificity and sensitivity, ranging from single nucleotide to entire chromosome. Compared to other CNV callers, CNV-Z shows higher specificity and positive predictive value for detecting exonic CNVs.
Article
Genetics & Heredity
Marwan M. Ali, Amy E. Gilliam, Beth S. Ruben, William E. Tidyman, Katherine A. Rauen
Summary: Noonan syndrome (NS) and neurofibromatosis type 1 (NF1) both have dysregulation of the Ras/MAPK pathway, leading to an increased incidence of juvenile myelomonocytic leukemia (JMML). NS individuals may be predisposed to juvenile xanthogranuloma (JXG) due to this common underlying pathogenetic dysregulation.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Yanan Wang, Zhenhua Zhao, Xinyu Fu, Shufang Li, Qiuyan Zhang, Xiangdong Kong
Summary: In this study, the precise breakpoints of a seemingly balanced translocation were identified using nanopore sequencing, revealing disrupted genes and hidden microduplications and deletions at the breakpoints.
FRONTIERS IN GENETICS
(2022)
Review
Genetics & Heredity
Hui-Hui Xu, Yang Zhang, Zhe-Hang He, Xing-Hong Di, Fei-Yan Pan, Wei-Wu Shi
Summary: This study describes a rare chromosome deletion and analyzes the genotype-phenotype correlation of Xq22.1-q22.3 deletions. The patient carries a 5.29 Mb deletion affecting 98 genes, including 7 known morbid genes. The patient inherited the deletion from her mother. This study provides new information for prenatal diagnosis and genetic counselling for similar chromosome abnormalities.
BMC MEDICAL GENOMICS
(2023)
Article
Genetics & Heredity
Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kazmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wisniowiecka-Kowalnik, Magdalena Bartnik-Glaska, Magdalena Niemiec, Dominika Grad, Malgorzata Piotrowicz, Dorota Gieruszczak-Bialek, Aleksandra Pietrzyk, T. Blaine Crowley, Victoria Giunta, Daniel E. McGinn, Elaine H. Zackai, Oanh Tran, Beverly S. Emanuel, Donna M. McDonald-McGinn, Beata A. Nowakowska
Summary: This study investigated the impact of additional genomic variants on the clinical presentation of patients with 22q11.2 deletion syndrome. Findings showed that 6.3% of patients had pathogenic or likely pathogenic copy number variants outside of the 22q11.2 region, indicating their contribution to the clinical phenotype. Furthermore, exome sequencing revealed pathogenic and likely pathogenic single nucleotide variants and small copy number variants in 3.49% and 5.81% of patients, respectively. These results highlight the importance of genome-wide approaches in identifying clinically relevant changes in individuals with 22q11 deletion syndrome.
Article
Medicine, General & Internal
Guoming Chu, Pingping Li, Juan Wen, Gaoyan Zheng, Yanyan Zhao, Rong He
Summary: This study aimed to investigate the genotype-phenotype correlation of 5p deletion syndrome and redefine the relevant regions. Through studying three families and two children, different sizes of 5p deletions were detected and their pathogenicity was determined. Additionally, the potential of whole genome sequencing in identifying chromosomal breakpoints in prenatal diagnosis was demonstrated.
FRONTIERS IN MEDICINE
(2022)
Article
Genetics & Heredity
Sandra Coppens, Laurence Desmyter, Manuel Koch, Semra Oezcelik, Emily O'Heir, Patrick Van Bogaert, Catheline Vilain, Florence Christiaens
Summary: Autosomal dominant and recessive mutations in COL12A1 can cause the Ehlers-Danlos/myopathy overlap syndrome. In this study, a boy with severe symptoms including fetal hypokinesia and muscle weakness was found to have a de novo heterozygous deletion in the COL12A1 gene. The analysis confirmed the pathogenicity of the deletion, highlighting the significance of CNV analysis in patients with suspected Ehlers-Danlos/myopathy overlap syndrome.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Review
Genetics & Heredity
Gabriel C. Dworschak, Iris A. L. M. van Rooij, Heiko M. Reutter
Summary: Anorectal malformations (ARM) are rare birth defects of the hindgut, occurring in approximately 1 in 3000 live births. The etiology is heterogeneous, with some cases potentially having familial inheritance and de novo mutations. Familial ARM may involve autosomal dominant inheritance, while de novo mutations can compensate for allele loss in affected individuals.
Article
Biochemistry & Molecular Biology
Sarah B. Yakimowski, Zachary Teitel, Christina M. Caruso
Summary: The study revealed a significant positive relationship between EPSPS copy number and glyphosate resistance in Amaranthus palmeri populations, with most populations exhibiting bimodality. The research also found evidence for a threshold model between copy number and resistance. Additionally, as copy number increased, the range of variation in resistance decreased, leading to a higher frequency of high phenotypic resistance individuals.
Article
Genetics & Heredity
Joana Maria Almeida Osorio, Borja Rodriguez-Herreros, David Romascano, Vincent Junod, Aline Habegger, Aurelie Pain, Sonia Richetin, Paola Yu, Bertrand Isidor, Lionel Van Maldergem, Linda Pons, Sabine Manificat, Nadia Chabane, Marine Jequier Gygax, Anne Manuela Maillard
Summary: Children with Autism Spectrum Disorder (ASD) show significantly higher scores in sensory processing compared to typically developing children, whereas those with 16p11.2 deletion exhibit similar sensory processing patterns to typically developing children. Both ASD and 16p11.2 deletion groups have higher sensory modulation patterns than typically developing children, with no significant differences between them. The findings highlight the importance of utilizing parent report measures in understanding sensory processing in ASD and other neurodevelopmental disorders.
Article
Hematology
Taeko Kaburagi, Genki Yamato, Norio Shiba, Kenichi Yoshida, Yusuke Hara, Ken Tabuchi, Yuichi Shiraishi, Kentaro Ohki, Manabu Sotomatsu, Hirokazu Arakawa, Hidemasa Matsuo, Akira Shimada, Tomohiko Taki, Nobutaka Kiyokawa, Daisuke Tomizawa, Keizo Horibe, Satoru Miyano, Takashi Taga, Souichi Adachi, Seishi Ogawa, Yasuhide Hayashi
Summary: This study analyzed the frequency, clinical significance, and prognostic relevance of RAS pathway alterations in 328 pediatric patients with de novo AML. It found that RAS pathway alterations were clinically relevant in pediatric AML and were associated with different prognostic outcomes.
Article
Genetics & Heredity
M. Zamariolli, A. G. Dantas, N. Nunes, M. Moyses-Oliveira, I. C. Sgardioli, D. C. Q. Soares, V. L. Gil-Da-Silva-Lopes, C. A. Kim, M. I. Melaragno
Summary: The clinical heterogeneity in 22q11.2 deletion syndrome (22q11.2DS) is influenced by complex genetic mechanisms, including genetic modifiers. Congenital heart disease (CHD) is a relevant phenotype in this syndrome, and copy number variants (CNVs) outside the 22q11.2 region may contribute to its variable expression. By analyzing CNVs in Brazilian patients with 22q11.2DS, this study identified potential modifiers for the cardiac phenotype, including genes related to ubiquitination, transcription factor binding sites, and miRNA targets.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Jennifer A. Herrmann, Agata Koprowska, Tesa J. Winters, Nancy Villanueva, Victoria D. Nikityuk, Feini Pek, Elizabeth M. Reis, Constancia Z. Dominguez, Daniel Davis, Eric McPherson, Staci R. Rocco, Cynthia Recendez, Shyla M. Difuntorum, Kelly Faeth, Mario D. Lopez, Habeeba M. Awwad, Rola A. Ghobashy, Lauren Cappiello, Ellen L. Neidle, Semarhy Quinones-Soto, Andrew B. Reams
Summary: Based on experiments with the Acinetobacter baylyi model system, we found that gene amplification mutations occur through a multistep process without requiring a stress response. These findings have important implications for understanding the role of growth-limiting selective environments in cancer development. Additionally, we suggest that duplication mutations may serve as new genomic biomarkers for early cancer detection and treatment.
G3-GENES GENOMES GENETICS
(2022)
Article
Genetics & Heredity
Mahmoud Aarabi, Jacqueline Baumann, Melanie Babcock, Elena Kessler, Jessica Sebastian, Suneeta Madan-Khetarpal, Jie Hu, Zhishuo Ou, Svetlana Yatsenko
Summary: This study provides evidence for pathogenic CNV hotspots within the chromosome 2q12.3-q13 region and suggests CNV classification based on the affected interval and the involvement of potential dosage-sensitive genes.
PSYCHIATRIC GENETICS
(2022)