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JOURNAL ARTICLE
Priyanka Narayan, Felix Richter, Sarah Morton
Congenital heart disease (CHD) is the most common severe birth anomaly, affecting almost 1% of infants. Most CHD is genetic, but only 40% of patients have an identifiable genetic risk factor for CHD. Chromosomal variation contributes significantly to CHD but is not readily amenable to biological follow-up due to the number of affected genes and lack of evolutionary synteny. The first CHD genes were implicated in extended families with syndromic CHD based on the segregation of risk alleles in affected family members...
2024: Current Topics in Developmental Biology
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JOURNAL ARTICLE
Nameer Hashim Qasim, Abzal Zhumagaliuly, Rabiga Khozhamkul, Fakher Rahim
Zygotic Genome Activation (ZGA) is a crucial developmental milestone in early embryogenesis, marking the transition from maternal to embryonic control of development. This process, which varies in timing across species, involves the activation of the embryonic genome, paving the way for subsequent cell differentiation and organismal development. Recent advances in genomics and reproductive medicine have highlighted the potential of ZGA in the realm of genetic screening, providing a window into the genetic integrity of the developing embryo at its earliest stages...
March 2024: Journal, Genetic Engineering & Biotechnology
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JOURNAL ARTICLE
Juli Liu, Shaoxian Chen, Guiping Huang, Pengju Wen, Xianwu Zhou, Yueheng Wu
Down syndrome (DS) arises from a genetic anomaly characterized by an extra copy of chromosome 21 (exCh21). Despite high incidence of congenital diseases among DS patients, direct impacts of exCh21 remain elusive. Here, we established a robust DS model harnessing human-induced pluripotent stem cells (hiPSCs) from mosaic DS patient. These hiPSC lines encompassed both those with standard karyotype and those carrying an extra copy of exCh21, allowing to generate isogenic cell lines with a consistent genetic background...
March 3, 2024: Cellular and Molecular Life Sciences: CMLS
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JOURNAL ARTICLE
James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae-Ik Choi, Carolyn A Allan, David J Amor, Siddharth Banka, Donald G Basel, Laura D Buch, Deanna Alexis Carere, Renée Carroll, Jill Clayton-Smith, Ali Crawford, Morten Dunø, Laurence Faivre, Christopher P Gilfillan, Nina B Gold, Karen W Gripp, Emma Hobson, Alexander M Holtz, A Micheil Innes, Bertrand Isidor, Adam Jackson, Panagiotis Katsonis, Leila Amel Riazat Kesh, Sébastien Küry, François Lecoquierre, Paul Lockhart, Julien Maraval, Naomichi Matsumoto, Julie McCarrier, Josephine McCarthy, Noriko Miyake, Lip Hen Moey, Andrea H Németh, Elsebet Østergaard, Rushina Patel, Kate Pope, Jennifer E Posey, Rhonda E Schnur, Marie Shaw, Elliot Stolerman, Julie P Taylor, Erin Wadman, Emma Wakeling, Susan M White, Lawrence C Wong, James R Lupski, Olivier Lichtarge, Mark A Corbett, Jozef Gecz, Charles M Nicolet, Peggy J Farnham, Cheol-Hee Kim, Marwan Shinawi
Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease. Here, we present clinical and molecular characterization of 18 individuals with germline ZFX variants. Exome or genome sequencing revealed 11 variants in 18 subjects (14 males and 4 females) from 16 unrelated families...
February 5, 2024: American Journal of Human Genetics
#5
JOURNAL ARTICLE
Kun Xie, Xiaojun Ge, Haque A K Alvi, Kang Liu, Jianfeng Song, Qiang Yu
Copy-number variations (CNVs), which refer to deletions and duplications of chromosomal segments, represent a significant source of variation among individuals, contributing to human evolution and being implicated in various diseases ranging from mental illness and developmental disorders to cancer. Despite the development of several methods for detecting copy number variations based on next-generation sequencing (NGS) data, achieving robust detection performance for CNVs with arbitrary coverage and amplitude remains challenging due to the inherent complexity of sequencing samples...
January 30, 2024: BMC Genomics
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JOURNAL ARTICLE
Irina Ioana Iordanescu, Anca Teodora Neacsu, Andreea Catana, Zina Barabas-CuzmicI, Viorel Suciu, Cristina Dragomir, Diana Elena Voicu, Emilia Severin, Mariela Sanda Militaru
Introduction: Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome. The prevalence of tetraploidy/diploidy mosaicism cases is extremely rare in the human population. Accurate estimates of the frequency of this chromosomal anomaly are lacking due to its classification as an extremely rare and difficult-to-detect condition. Methods: In this report, we describe two cases involving challenging diagnoses of tetraploidy/diploidy and trisomy 12...
2023: Frontiers in Genetics
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JOURNAL ARTICLE
Hiroaki Murakami, Yumi Enomoto, Tatsuro Kumaki, Noriko Aida, Kenji Kurosawa
Zic family member 1 (ZIC1), a gene located on chromosome 3q24, encodes a transcription factor with zinc finger domains that is essential for the normal development of the cerebellum. Heterozygous loss-of-function of ZIC1 causes Dandy-Walker malformation, while heterozygous gain-of-function leads to a multiple congenital anomaly syndrome characterized by craniosynostosis, brain abnormalities, facial features, and learning disability. In this study, we present the results of genetic analysis of a male patient with clinically suspected Gomez-Lopez-Hernandez syndrome...
November 10, 2023: Journal of Human Genetics
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JOURNAL ARTICLE
Maria Paola Bonasoni, Giuseppina Comitini, Mariangela Pati, Veronica Bizzarri, Veronica Barbieri, Maria Marinelli, Stefano Giuseppe Caraffi, Roberta Zuntini, Marzia Pollazzon, Andrea Palicelli, Livia Garavelli
Background: SOX2 disorders are associated with anophthalmia-esophageal-genital syndrome or microphthalmia, syndromic 3 (MCOPS3- # 206900). Case Report: We describe a third fetal case with a de novo 3q26.32q26.33 deletion extending for 4.31 Mb, detected in a 15-week fetus. After legal interruption of pregnancy, at autopsy, the fetus presented bilateral microphthalmia, right cleft lip and palate, bilateral cerebral ventriculomegaly and dilated third ventricle, microcystic left lung, and intestinal malrotation...
September 25, 2023: Fetal and Pediatric Pathology
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JOURNAL ARTICLE
Lulu Li, Guocheng Shi, Xingyu Zhang, Teng Wang, Bo Wang, Yunqian Gao, Guoling You, Qihua Fu, Ying Xiang, Xiaoqing Zhang
BACKGROUND: Primary ciliary dyskinesia (PCD) is a clinically heterogeneous group of autosomal or, less frequently, X-chromosomal recessive inheritance syndrome of motile cilia dysfunction characterized by neonatal respiratory distress, oto-sino-pulmonary disease, infertility and situs inversus. Recently, type 43 PCD (CILD43, OMIM#618699) was established by autosomal-dominant loss-of-function mutations identified in Forkhead box J1 ( FOXJ1 ). However, the functional validation of FOXJ1 mutations in humans and mice has not been fully performed...
August 30, 2023: Translational Pediatrics
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JOURNAL ARTICLE
Emily A Huth, Xiaonan Zhao, Nichole Owen, Pamela N Luna, Ida Vogel, Inger L H Dorf, Shelagh Joss, Jill Clayton-Smith, Michael J Parker, Jacoba J Louw, Marc Gewillig, Jeroen Breckpot, Alison Kraus, Erina Sasaki, Usha Kini, Trent Burgess, Tiong Y Tan, Ruth Armstrong, Katherine Neas, Giovanni B Ferrero, Alfredo Brusco, Wihelmina S Kerstjens-Frederikse, Julia Rankin, Lindsey R Helvaty, Benjamin J Landis, Gabrielle C Geddes, Kim L McBride, Stephanie M Ware, Chad A Shaw, Seema R Lalani, Jill A Rosenfeld, Daryl A Scott
Anomalous pulmonary venous return (APVR) frequently occurs with other congenital heart defects (CHDs) or extra-cardiac anomalies. While some genetic causes have been identified, the optimal approach to genetic testing in individuals with APVR remains uncertain, and the etiology of most cases of APVR is unclear. Here, we analyzed molecular data from 49 individuals to determine the diagnostic yield of clinical exome sequencing (ES) for non-isolated APVR. A definitive or probable diagnosis was made for 8 of those individuals yielding a diagnostic efficacy rate of 16...
September 7, 2023: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
K Gadsbøll, I Vogel, L H Pedersen, S E Kristensen, E H Steffensen, A Wright, D Wright, J Hyett, O B Petersen
OBJECTIVES: To examine the distribution of nuchal translucency thickness (NT), free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in pregnancies with a fetal 22q11.2 aberration. Further, the performance of combined first-trimester screening (cFTS) in detecting affected pregnancies and a new risk algorithm specifically for 22q11.2 deletions will be evaluated. Finally,, the prevalence of prenatal malformations and pregnancy outcomes will be assessed...
August 29, 2023: Ultrasound in Obstetrics & Gynecology
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JOURNAL ARTICLE
J Shane Kippenhan, Michael D Gregory, Tiffany Nash, Philip Kohn, Carolyn B Mervis, Daniel P Eisenberg, Madeline H Garvey, Katherine Roe, Colleen A Morris, Bhaskar Kolachana, Ariel M Pani, Leah Sorcher, Karen F Berman
BACKGROUND: Williams syndrome (WS), a rare neurodevelopmental disorder caused by hemizygous deletion of ~ 25 genes from chromosomal band 7q11.23, affords an exceptional opportunity to study associations between a well-delineated genetic abnormality and a well-characterized neurobehavioral profile. Clinically, WS is typified by increased social drive (often termed "hypersociability") and severe visuospatial construction deficits. Previous studies have linked visuospatial problems in WS with alterations in the dorsal visual processing stream...
August 26, 2023: Journal of Neurodevelopmental Disorders
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JOURNAL ARTICLE
Analia Yogi, Ryosei Iemura, Hisae Nakatani, Kei Takasawa, Maki Gau, Takeru Yamauchi, Masayuki Yoshida, Keiji Moriyama, Taku Ishii, Susumu Hosokawa, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Kenichi Kashimada, Tomohiro Morio
BMP2 (bone morphogenic protein-2) is a member of the TGF-β superfamily and has essential roles in the development of multiple organs, including osteogenesis. Because of its crucial role in organ and skeletal development, Bmp2 null mice is fetal lethal. The recent report has characterized multiple patients with BMP2 haploinsufficiency, describing individuals with BMP2 sequence variants and deletions associated with short stature without endocrinological abnormalities, a recognizable craniofacial gestalt, skeletal anomalies, and congenital heart disease...
August 10, 2023: European Journal of Medical Genetics
#14
JOURNAL ARTICLE
Yosra Bejaoui, Sara Alresheq, Sophie Durand, Marie Vilaire-Meunier, Louise Maillebouis, Ayman Al Haj Zen, André Mégarbané, Nady El Hajj
BACKGROUND: Down Syndrome (DS) is the most common chromosome anomaly in humans and occurs due to an extra copy of chromosome 21. The malignancy profile in DS is unique, since DS patients have a low risk of developing solid tumors such as breast cancer however they are at higher risk of developing acute myeloid leukemia and acute lymphoblastic leukemia. METHODS: In this study, we investigated DNA methylation signatures and epigenetic aging in DS individuals with and without breast cancer...
2023: Frontiers in Oncology
#15
JOURNAL ARTICLE
Jun Kido, Kimiyasu Egami, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura
Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who presented with impaired intelligence, short stature, frequent hypoglycemia, and periodic fever. Patients with nonsense variants in KLHL15 may develop intellectual disabilities, minor skeletal anomalies, and facial dysmorphisms.
July 14, 2023: Human Genome Variation
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JOURNAL ARTICLE
Alana Luzzio, Sarah Edie, Kristina Palmer, L Brianna Caddle, Rachel Urban, Leslie O Goodwin, Ian C Welsh, Laura G Reinholdt, David E Bergstrom, Timothy C Cox, Leah Rae Donahue, Stephen A Murray
The external ear develops from an organized convergence of ventrally migrating neural crest cells into the first and second branchial arches. Defects in external ear position are often symptomatic of complex syndromes such as Apert, Treacher-Collins, and Crouzon Syndrome. The low set ears (Lse) spontaneous mouse mutant is characterized by the dominant inheritance of a ventrally shifted external ear position and an abnormal external auditory meatus (EAM). We identified the causative mutation as a 148 Kb tandem duplication on Chromosome 7, which includes the entire coding sequences of Fgf3 and Fgf4...
June 21, 2023: Mammalian Genome: Official Journal of the International Mammalian Genome Society
#17
JOURNAL ARTICLE
David A Parker, Joseph F Cubells, Sid L Imes, Gabrielle A Ruban, Brett T Henshey, Nicholas M Massa, Elaine F Walker, Erica J Duncan, Opal Y Ousley
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal interstitial-deletion disorder, occurring in approximately 1 in 2000 to 6000 live births. Affected individuals exhibit variable clinical phenotypes that can include velopharyngeal anomalies, heart defects, T-cell-related immune deficits, dysmorphic facial features, neurodevelopmental disorders, including autism, early cognitive decline, schizophrenia, and other psychiatric disorders. Developing comprehensive treatments for 22q11...
June 13, 2023: BMC Psychiatry
#18
JOURNAL ARTICLE
Mohamed Darwish, Satoko Hattori, Hirofumi Nishizono, Tsuyoshi Miyakawa, Nozomu Yachie, Keizo Takao
Glycine receptors (GlyRs) are ligand-gated chloride channels comprising alpha (α1-4) and β subunits. The GlyR subunits play major roles in the mammalian central nervous system, ranging from regulating simple sensory information to modulating higher-order brain function. Unlike the other GlyR subunits, GlyR α4 receives relatively little attention because the human ortholog lacks a transmembrane domain and is thus considered a pseudogene. A recent genetic study reported that the GLRA4 pseudogene locus on the X chromosome is potentially involved in cognitive impairment, motor delay and craniofacial anomalies in humans...
May 22, 2023: Molecular Brain
#19
JOURNAL ARTICLE
I kappa B kinase interacting protein as a promising biomarker in pan-cancer: A multi-omics analysis.
Chenyang Bi, Zhe Wang, Yafei Xiao, Ying Zhao, Runjiang Guo, Luyao Xiong, Zhiyu Ji, Yifan Li, Quanying Li, Changjiang Qin
Background: Human chromosome 12 contains I kappa B kinase interacting protein (IKBIP) is also commonly known as IKIP. The involvement of IKBIP in the growth of tumors has only been discussed in a small number of publications. Purpose: To explore the role that IKBIP plays in the development of a wide variety of neoplasms, as well as the tumor immunological microenvironment. Methods: UALCAN, HPA, Genotype Tissue Expression, Cancer Genome Maps, and other datasets were used to analyze IKBIP expression. We thoroughly investigated the predictive importance of IKBIP in pan-cancer, clinical traits, and genetic anomalies...
2023: Frontiers in Genetics
#20
JOURNAL ARTICLE
Valeria Taliani, Giulia Buonaiuto, Fabio Desideri, Adriano Setti, Tiziana Santini, Silvia Galfrè, Leonardo Schirone, Davide Mariani, Giacomo Frati, Valentina Valenti, Sebastiano Sciarretta, Emerald Perlas, Carmine Nicoletti, Antonio Musarò, Monica Ballarino
Long noncoding RNAs (lncRNAs) are emerging as critical regulators of heart physiology and disease, although the studies unveiling their modes-of-action are still limited to few examples. We recently identified pCharme, a chromatin-associated lncRNA whose functional knockout in mice results in defective myogenesis and morphological remodelling of the cardiac muscle. Here, we combined Cap-Analysis of Gene Expression (CAGE), single-cell (sc)RNA sequencing and whole-mount in situ hybridization analyses to study pCharme cardiac expression...
March 6, 2023: ELife
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