Article
Biochemistry & Molecular Biology
Sandra Tapial, Juan Luis Garcia, Luis Corchete, Andreana N. Holowatyj, Jessica Perez, Daniel Rueda, Miguel Urioste, Rogelio Gonzalez-Sarmiento, Jose Perea
Summary: The study established a cnLOH profile of synchronous colorectal cancer (SCRC) and found associations between cnLOH and polyclonal SCRC, with inactivation of tumor suppressor genes and cnLOH being rare events in SCRC cases. The research defines distinct patterns of cnLOH in SCRC and provides initial evidence of a role for cnLOH in the etiology of SCRC.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Tasuku Mariya, Takema Kato, Takeshi Sugimoto, Syunsuke Miyai, Hidehito Inagaki, Tamae Ohye, Eiji Sugihara, Yukako Muramatsu, Seiji Mizuno, Hiroki Kurahashi
Summary: By using adaptive sampling and nanopore long-read sequencing technology, we successfully determined the structures of two sSMCs with complex rearrangements. Adaptive sampling enables rapid enrichment of target regions and improves sequencing coverage, thus facilitating the analysis of complex chromosomal rearrangements.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Obstetrics & Gynecology
Pieter Verdyck, Veerle Berckmoes, Sven Van Laere, Kathelijn Keymolen, Catharina Olsen, Martine De Rycke
Summary: This study investigates a new method called APCAD for reliably detecting mosaic aneuploidy in preimplantation embryos. By evaluating maternal contribution, the method can distinguish mosaic and complete aneuploidy and determine the parent of origin for the chromosomal anomalies.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Genetics & Heredity
Zirui Dong, Matthew Hoi Kin Chau, Yanyan Zhang, Zhenjun Yang, Mengmeng Shi, Yi Man Wah, Yvonne K. Kwok, Tak Yeung Leung, Cynthia C. Morton, Kwong Wai Choy
Summary: Low-pass genome sequencing is shown to be a feasible method for analyzing AOH (>= 5 Mb) and demonstrates high concordance compared to chromosomal microarray analysis (CMA).
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Patrick R. Gonzales, Erica F. Andersen, Teneille R. Brown, Vanessa L. Horner, Juli Horwitz, Catherine W. Rehder, Natasha L. Rudy, Nathaniel H. Robin, Erik C. Thorland
Summary: Genomic testing can detect long regions of homozygosity and possible uniparental disomy, providing valuable information for the diagnosis of genetic/genomic disorders. The distribution of these segments can indicate a familial relationship between the parents of the individual being tested. This article describes the detection of consanguinity and uniparental disomy using genomic testing, as well as the ethical and legal issues associated with these findings.
GENETICS IN MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Maurizio Delvecchio, Federica Ortolani, Orazio Palumbo, Concetta Aloi, Alessandro Salina, Francesco Claudio Susca, Pietro Palumbo, Massimo Carella, Nicoletta Resta, Elvira Piccinno
Summary: This article describes a rare case of Wolfram syndrome with unique genetic mutations and clinical manifestations, highlighting the importance of genetic variations in disease development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Genetics & Heredity
Peter Benn
Summary: UPD is defined as two copies of a whole chromosome derived from the same parent. The most common type is maternal heterodisomy. UPD provides insight into the history of early chromosome segregation errors.
PRENATAL DIAGNOSIS
(2021)
Article
Pediatrics
Lu Zhang, Xiaoliang Liu, Yunjing Zhao, Qingyi Wang, Yuanyuan Zhang, Haiming Gao, Bijun Zhang, Wanting Cui, Yanyan Zhao
Summary: This study investigated the phenotype-genotype associations of physical, psychological, and behavioral features in a large cohort of Chinese pediatric patients with Prader-Willi syndrome (PWS). The results showed differences in phenotypic characteristics among different genetic subtypes. Additionally, growth hormone treatment significantly improved height and IGF-I levels.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
Article
Pathology
Con Ngo, Maria Baluyot, Bruce Bennetts, Johanna Carmichael, Alissa Clark, Artur Drmanian, Thet Gayagay, Luke Jones, Benjamin Nash, Melanie Clark, Ngaire Jose, Samantha Robinson, Luke St Heaps, Dale Wright
Summary: This study evaluated SNP microarray UPD genotyping on family trios/duos and found that UPD occurred in a significant proportion of cases, with chromosome 15 being the most frequent. UPD was predominantly of maternal origin and highest in suspected genomic imprinting disorder cases. It was not found in children of translocation carriers. The study also assessed the size of regions of homozygosity among UPD cases and found that they may confound genotyping.
Review
Medicine, General & Internal
Gwo-Chin Ma, Tze-Ho Chen, Wan-Ju Wu, Dong-Jay Lee, Wen-Hsiang Lin, Ming Chen
Summary: This study aims to summarize the prenatal diagnosis and phenotypic features of Beckwith-Wiedemann syndrome (BWS). It analyzed 166 BWS cases and found that the common fetal features include abdominal wall defects, polyhydramnios, and macrosomia. Molecular pathologies include methylation changes in imprinting control regions, paternal uniparental disomy of chromosome 11p15.5, and copy number changes involving 11p15. The study suggests using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as the first-line molecular tool for prenatal diagnosis.
Article
Genetics & Heredity
Areerat Hnoonual, Phawin Kor-anantakul, Chariyawan Charalsawadi, Juthamas Worachotekamjorn, Pornprot Limprasert
Summary: This study identified a case of ASD with maternal UPD of chromosome 15, consistent with Angelman syndrome. The patient’s clinical features did not match classic Angelman syndrome, highlighting the importance of testing for Angelman syndrome in ASD patients with unknown etiology.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Aurelie Gouronc, Elodie Javey, Anne-Sophie Leuvrey, Elsa Nourisson, Sylvie Friedmann, Valerie Reichert, Nicolas Derive, Christine Francannet, Boris Keren, Jonathan Levy, Marc Planes, Lyse Ruaud, Jeanne Amiel, Helene Dollfus, Sophie Scheidecker, Jean Muller
Summary: Ciliopathies, rare genetic disorders caused by dysfunction of cilia, often inherit autosomal recessively, but exceptions like UPD or de novo variants exist. In this study, 940 individuals with suspected ciliopathy were examined and a high prevalence of UPD and de novo variants was found in a large cohort of ciliopathies, emphasizing the importance of identifying such rare genetic events for genetic counseling.
Review
Obstetrics & Gynecology
Shu-Chin Chien, Chih-Ping Chen, Jui-Der Liou
Summary: Uniparental disomy (UPD) refers to the inheritance of both homologous chromosomes from a single parent. While most cases of UPD do not have pathogenic effects on chromosomes, abnormal phenotypes can occur when UPD disrupts genetic imprinting or uncovers harmful autosomal recessive mutations. Maternal UPD has been documented for chromosomes 7, 11, 14, 15, 16, and 20, while paternal UPD has been identified for chromosomes 6, 11, 14, 15, and 20. Prenatal awareness of UPD is crucial for providing accurate genetic counseling, and prenatal UPD testing is recommended in cases of abnormal fetal ultrasound or suspicious phenotypes associated with UPD syndromes caused by genetic imprinting disorders or chromosomal aberrations.
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
(2022)
Article
Genetics & Heredity
Qi Chen, Yunpeng Chen, Lin Shi, Ying Tao, Xiaoguang Li, Xiaolan Zhu, Yan Yang, Wenlin Xu
Summary: This study describes the clinical phenotypes and genetic findings of three patients with UPD, highlighting the importance of genetic testing in confirming the diagnosis and origin of UPD. The results reveal different chromosomal UPDs and associated gene mutations, providing insights into the underlying mechanisms of imprinted disorders and copy number variations.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Lei Wang, Pengfei Liu, Weimin Bi, Teresa Sim, Xia Wang, Magdalene Walkiewicz, Magalie Sophie Leduc, Linyan Meng, Fan Xia, Christine M. Eng, Yaping Yang, Bo Yuan, Hongzheng Dai
Summary: The study investigated the significance of uniparental disomy (UPD) in clinical genetic diagnosis and its application in trio exome sequencing (ES) cases.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
