Article
Genetics & Heredity
Rahma Touhami, Hajer Foddha, Eudeline Alix, Afef Jalloul, Soumaya Mougou-Zerelli, Ali Saad, Damien Sanlaville, Amel Haj Khelil
Summary: A 10-year-old Tunisian patient with psychomotor delay, epilepsy, and facial abnormalities was found to have a chromosome 7 deletion and chromosome 8 duplication resulting from maternal reciprocal translocation. The deletion on chromosome 7 may be related to the patient's phenotype, particularly the absence of the BRAT1 gene. Array CGH is still valuable for genetic diagnosis in patients with neurodevelopmental abnormalities in the era of next-generation sequencing.
FRONTIERS IN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Shang-Jun Yin, Jae-Rin Lee, Myong-Joon Hahn, Jun-Mo Yang, Guo-Ying Qian, Yong-Doo Park
Summary: Our study investigated tyrosinase-associated melanogenesis in melanoma cells using OMICS techniques. We characterized chromosome copy numbers in different melanoma cell lines and identified differences in the stability of 11q21 between TXM13, G361, and SK-MEL-28 cells. The proteomic profiling of TXM13 cells revealed key hub proteins linking tyrosinase-triggered melanogenesis and melanoma growth.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2021)
Review
Genetics & Heredity
Elena-Silvia Shelby, Michael Morris, Liliana Padure, Andrada Mirea, Relu Cocos, Alexandru Caramizaru, Simona Serban-Sosoi, Andrei Pirvu, Ioana Streata
Summary: 19q13 microdeletion syndrome is a rare genetic disease characterized by growth retardation and intellectual disability. This article reports the first case of this syndrome in Romania, with some unique features not previously reported.
Article
Medicine, Research & Experimental
Florin Burada, Ioana Streata, Anda Ungureanu, Dan Ruican, Rodica Nagy, Simona Serban-Sosoi, Danai Stambouli, Luiza Dimos, Gabriela Popescu-Hobeanu, Ioana Mihai, Dominic Iliescu
Summary: A very rare prenatal case of a partial 15q trisomy, a 42.64-Mb duplication of 15q22.2-q26.3, arising from a maternal pericentric inversion of chromosome 15 was reported, which was not the result of an unbalanced translocation or duplication, and was not associated with concomitant partial monosomy.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2021)
Article
Genetics & Heredity
Marta Czako, Agnes Till, Judith Zima, Anna Zsigmond, Andras Szabo, Anita Maasz, Bela Melegh, Kinga Hadzsiev
Summary: Duplication of the Xp11.23p11.22 region is rare in diseases with X-linked inheritance and intellectual disability, with less than 90 cases known in the literature. The pathogenic role of this duplication is widely accepted, but information on its pathomechanism, especially in affected females, remains limited. Phenotypic variability in females makes individual prognosis difficult despite the identification of overlapping duplications in certain patients.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Alessandro De Falco, Achille Iolascon, Flora Ascione, Carmelo Piscopo
Summary: The use of array comparative genomic hybridization (array-CGH) has identified new microdeletion/microduplication syndromes, including the 9q21.13 microdeletion syndrome. This syndrome involves the loss of a specific genomic region and is associated with developmental delay, intellectual disability, autistic behavior, seizures, facial dysmorphism, myopia, and previously unreported brain anomalies. A study of 28 patients, including our case, allowed for the classification and analysis of candidate genes, as well as the correlation between genotype and phenotype. These findings provide a better understanding of the syndromic spectrum of 9q21.13 microdeletion syndrome and suggest the need for regular ophthalmological and neurological monitoring.
Article
Genetics & Heredity
Ewelina Bukowska-Olech, Anna Sowinska-Seidler, Jolanta Wierzba, Aleksander Jamsheer
Summary: SHFLD3 is an extremely rare condition associated with duplications located on 17p13.3. This study investigated two families with SHFLD3 and found one-allele triplication and duplication in the 17p13.3 locus. All symptomatic carriers exhibited variable SHFLD3 phenotype. The findings provide insights for the diagnosis and understanding of SHFLD3.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Medicine, General & Internal
Antonino Maria Quintilio Alberio, Annalisa Legitimo, Veronica Bertini, Giampiero Baroncelli, Giorgio Costagliola, Angelo Valetto, Rita Consolini
Summary: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a primary immunodeficiency with a wide range of clinical presentations and T-cell deficiency. We reported a cohort of patients who showed highly suggestive clinical features of 22q11.2DS but without the 22q11.2 deletion. The cardinal features of 22q11.2DS were observed in most patients, and immunologic assessment revealed varying degrees of T-cell immunodeficiency. Array CGH analysis identified new copy number variations (CNVs) in these patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Serena Redaelli, Donatella Conconi, Elena Sala, Nicoletta Villa, Francesca Crosti, Gaia Roversi, Ilaria Catusi, Chiara Valtorta, Maria Paola Recalcati, Leda Dalpra, Marialuisa Lavitrano, Angela Bentivegna
Summary: Advancements in microarray-based comparative genomic hybridization technology have enabled high-resolution detection of genome-wide copy number alterations, particularly in chromosome 8p. This study focused on 12 cases of 8p rearrangements, revealing a continuum of fragility along the entire short arm with breakpoints concentrated in three intervals. The data expands the cohort of published patients with 8p aberrations and emphasizes the importance of paying special attention to these sequences to prevent the development of new chromosomal aberrations with pathological effects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, David Ros-Pardo, Marta Gil-Salvador, Maria Arnedo, Beatriz Puisac, Neus Castells, Alberto Plaja, Anna Tenes, Ivon Cusco, Laura Trujillano, Feliciano J. Ramos, Eduardo F. Tizzano, Paulino Gomez-Puertas, Juan Pie
Summary: Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by distinctive facial features, growth retardation, and intellectual disability, caused by genetic variants in genes related to the cohesin complex. Copy number variants (CNVs) have been identified as a significant molecular cause of CdLS, with genes such as HDAC8, RAD21, and SMC1A playing a role.
Article
Pediatrics
Gregorio Serra, Sofia Felice, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffre, Ettore Piro, Giovanni Corsello
Summary: Cardio-facio-cutaneous syndrome (CFCS) is a rare syndrome caused by mutations in genes of the RAS/MAPK pathway. It is characterized by facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. The 19p13.3 microdeletion, including the MAP 2 K2 gene, has been associated with a more severe phenotype in CFCS patients.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
Article
Dermatology
Weilong Zhong, Linghan Hu, Xu Cao, Jiahui Zhao, Xianning Zhang, Mingyang Lee, Huijun Wang, Jie Zhang, Quan Chen, Cheng Feng, Lina Duo, Xiuli Wang, Li Tang, Zhimiao Lin, Yong Yang
Summary: The study identified new and recurrent variations in the TRPV3 gene in patients with Olmsted syndrome, finding that variations in specific regions of the gene significantly enhance channel function and lead to severe phenotypes, while other variations have milder effects.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Article
Genetics & Heredity
Angela Verdoni, Jie Hu, Urvashi Surti, Melanie Babcock, Elizabeth Sheehan, Michele Clemens, Sarah Drewes, Leslie Walsh, Rebecca Clark, Sunita Katari, Joe Sanfilippo, Devereux N. Saller, Aleksandar Rajkovic, Svetlana A. Yatsenko
Summary: Patients with reciprocal balanced translocations (RBT) are at risk for recurrent pregnancy losses (RPL), affected children, and infertility. Factors such as chromosome-specific factors, female gender, age, and history of RPL influence pregnancy and in vitro fertilization success in RBT patients. Chromosomal microarray analysis of products of conception (POC) is necessary for accurate and timely diagnosis of patients with adverse reproductive outcomes.
GENETICS IN MEDICINE
(2021)
Article
Physics, Multidisciplinary
Pablo Catalan, Juan Antonio Garcia-Martin, Jacobo Aguirre, Jose A. Cuesta, Susanna Manrubia
Summary: Not all phenotypes are equally accessible to evolving populations. Larger phenotypes resulting from a variety of genotypes are more common and easily maintained. Genotypes that map to these phenotypes form connected networks, allowing access to numerous alternative phenotypes. The reproductive ability and topology of the genotype network impact the fitness of a phenotype, and a fraction of phenotypes is unattainable.
JOURNAL OF PHYSICS A-MATHEMATICAL AND THEORETICAL
(2023)
Article
Biochemical Research Methods
Azza Althagafi, Lamia Alsubaie, Nagarajan Kathiresan, Katsuhiko Mineta, Taghrid Aloraini, Fuad Almutairi, Majid Alfadhel, Takashi Gojobori, Ahmad Alfares, Robert Hoehndorf
Summary: This study developed a computational method called DeepSVP to prioritize structural variants involved in genetic diseases by combining genomic and gene function information. By incorporating information about gene phenotypes, gene product functions, gene expression in different cell types and anatomical sites, and systematically linking them to phenotypic consequences, DeepSVP significantly improves the success rate of finding causative variants.