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JOURNAL ARTICLE
Claudio Fiorini, Andrea Degiorgi, Maria Lucia Cascavilla, Concetta Valentina Tropeano, Chiara La Morgia, Marco Battista, Danara Ormanbekova, Flavia Palombo, Michele Carbonelli, Francesco Bandello, Valerio Carelli, Alessandra Maresca, Piero Barboni, Enrico Baruffini, Leonardo Caporali
BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder characterised by complex I defect leading to sudden degeneration of retinal ganglion cells. Although typically associated with pathogenic variants in mitochondrial DNA, LHON was recently described in patients carrying biallelic variants in nuclear genes DNAJC30 , NDUFS2 and MCAT . MCAT is part of mitochondrial fatty acid synthesis (mtFAS), as also MECR, the mitochondrial trans-2-enoyl-CoA reductase. MECR mutations lead to a recessive childhood-onset syndromic disorder with dystonia, optic atrophy and basal ganglia abnormalities...
September 21, 2023: Journal of Medical Genetics
#2
JOURNAL ARTICLE
Pauline Marzin, Sophie Rondeau, Jean-Luc Alessandri, Klaus Dieterich, Carine le Goff, Clémentine Mahaut, Sandra Mercier, Caroline Michot, Oana Moldovan, Gianmaria Miolo, Massimiliano Rossi, Julien Van-Gils, Christine Francannet, Matthieu Robert, Jean-Philippe Jaïs, Céline Huber, Valerie Cormier-Daire
BACKGROUND: Weill-Marchesani syndrome (WMS) belongs to the group of acromelic dysplasias, defined by short stature, brachydactyly and joint limitations. WMS is characterised by specific ophthalmological abnormalities, although cardiovascular defects have also been reported. Monoallelic variations in FBN1 are associated with a dominant form of WMS, while biallelic variations in ADAMTS10 , ADAMTS17 and LTBP2 are responsible for a recessive form of WMS. OBJECTIVE: Natural history description of WMS and genotype-phenotype correlation establishment...
September 21, 2023: Journal of Medical Genetics
#3
JOURNAL ARTICLE
Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G Stühn, Miriam Bertrand, Amelie Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Francoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, Tilman Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Riess, Katarina Stingl, Tobias B Haack
PURPOSE: Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond the exome' in regular care of patients with inherited retinal degeneration (IRD) or inherited optic neuropathy (ION). METHODS: PCR-free short-read GS was performed on 1000 consecutive probands with IRD/ION in routine diagnostics. Complementary whole-blood RNA-sequencing (RNA-seq) was done in a subset of 74 patients...
September 21, 2023: Journal of Medical Genetics
#4
JOURNAL ARTICLE
Elizabeth Terhune, Patricia Heyn, Christi Piper, Cambria Wethey, Anna Monley, Melissa Cuevas, Nancy Hadley Miller
BACKGROUND: Adolescent idiopathic scoliosis (AIS) is a structural lateral spinal curvature of ≥10° with rotation. Approximately 2%-3% of children across populations are affected with AIS, and this condition is responsible for ~$3 billion in costs within the USA. Although AIS is believed to have a strong genetic contribution, clinical translation of identified genetic variants has stalled. METHODS: The databases MEDLINE (via PubMed), Embase, Google Scholar and Ovid MEDLINE were searched and limited to articles in English...
September 11, 2023: Journal of Medical Genetics
#5
JOURNAL ARTICLE
Valeria Agostini, Aude Tessier, Nabila Djaziri, Roman Hossein Khonsari, Eva Galliani, Yukiko Kurihara, Masahiko Honda, Hiroki Kurihara, Kyoko Hidaka, Gokhan Tuncbilek, Arnaud Picard, Ersoy Konas, Jeanne Amiel, Christopher T Gordon
BACKGROUND: Syngnathia is an ultrarare craniofacial malformation characterised by an inability to open the mouth due to congenital fusion of the upper and lower jaws. The genetic causes of isolated bony syngnathia are unknown. METHODS: We used whole exome and Sanger sequencing and microsatellite analysis in six patients (from four families) presenting with syngnathia. We used CRISPR/Cas9 genome editing to generate vgll2a and vgll4l germline mutant zebrafish, and performed craniofacial cartilage analysis in homozygous mutants...
September 4, 2023: Journal of Medical Genetics
#6
JOURNAL ARTICLE
Rachel Hodan, Kerry Kingham, Allison W Kurian
We identified six patients from five families with a recurrent mutation: NM_000059.3 ( BRCA2 ) exon 3 deletion. All families self-identified as Assyrian. Assyrians are an ethnoreligious population of ancient Mesopotamia, now mostly living in modern day Iraq, Syria, Turkey and Iran. They are historically a socially isolated population with intermarriage within their community, living as a religious and language minority in mostly Muslim countries. The probands of each family presented with a classic BRCA2- associated cancer including early-onset breast cancer, epithelial serous ovarian cancer, male breast cancer and/or high-grade prostate cancer, and family history that was also significant for BRCA2 -associated cancer...
September 1, 2023: Journal of Medical Genetics
#7
JOURNAL ARTICLE
Yuchen Chang, Julie Wacker, Jodie Ingles, Ivan Macciocca, Ingrid King, Christopher Semsarian, Julie McGaughran, Robert G Weintraub, Richard D Bagnall
TBX20 encodes a cardiac transcription factor that is associated with atrial septal defects. Recent studies implicate loss-of-function TBX20 variants with left ventricular non-compaction cardiomyopathy (LVNC), although clinical and genetic data in families are limited. We report four families with TBX20 loss-of-function variants that segregate with LVNC. Genetic testing using genome or exome sequencing was performed in index cases, variants were validated with Sanger sequencing, and cascade genetic testing was performed in family members...
September 1, 2023: Journal of Medical Genetics
#8
JOURNAL ARTICLE
Sara Fernández-Castillejo, Bàrbara Roig, Mireia Melé, Sara Serrano, Mònica Salvat, Montserrat Querol, Joan Brunet, Marta Pineda, Adela Cisneros, David Parada, Joan Badia, Joan Borràs, Marta Rodríguez-Balada, Josep Gumà
BACKGROUND: Multigene panel testing by next-generation sequencing (MGP-NGS) enables the detection of germline pathogenic or likely pathogenic variants (PVs/LPVs) in genes beyond those associated with a certain cancer phenotype. Opportunistic genetic screening based on MGP-NGS in patients with suspicion of hereditary cancer reveals these incidental findings (IFs). METHODS: MGP-NGS was performed in patients who fulfilled the clinical criteria to undergo genetic testing according to the Catalan Health Service guidelines...
August 17, 2023: Journal of Medical Genetics
#9
JOURNAL ARTICLE
Caroline Racine, Anne-Sophie Denommé-Pichon, Camille Engel, Frederic Tran Mau-Them, Ange-Line Bruel, Antonio Vitobello, Hana Safraou, Arthur Sorlin, Sophie Nambot, Julian Delanne, Aurore Garde, Estelle Colin, Sébastien Moutton, Julien Thevenon, Nolwenn Jean-Marçais, Marjolaine Willems, David Geneviève, Lucile Pinson, Laurence Perrin, Fanny Laffargue, James Lespinasse, Elodie Lacaze, Arnaud Molin, Marion Gerard, Laetitia Lambert, Charlotte Benigni, Olivier Patat, Valentin Bourgeois, Charlotte Poe, Martin Chevarin, Victor Couturier, Philippine Garret, Christophe Philippe, Yannis Duffourd, Laurence Faivre, Christel Thauvin-Robinet
PURPOSE: Wide access to clinical exome/genome sequencing (ES/GS) enables the identification of multiple molecular diagnoses (MMDs), being a long-standing but underestimated concept, defined by two or more causal loci implicated in the phenotype of an individual with a rare disease. Only few series report MMDs rates (1.8% to 7.1%). This study highlights the increasing role of MMDs in a large cohort of individuals addressed for congenital anomalies/intellectual disability (CA/ID). METHODS: From 2014 to 2021, our diagnostic laboratory rendered 880/2658 positive ES diagnoses for CA/ID aetiology...
August 16, 2023: Journal of Medical Genetics
#10
JOURNAL ARTICLE
Ying Duan, Wanqi Zheng, Yu Xia, Huiwen Zhang, Lili Liang, Ruifang Wang, Yi Yang, Kaichuang Zhang, Deyun Lu, Yuning Sun, Lianshu Han, Yongguo Yu, Xuefan Gu, Yu Sun, Bing Xiao, Wenjuan Qiu
BACKGROUND: Primary adrenal insufficiency (PAI) is a rare but life-threatening condition. Differential diagnosis of numerous causes of PAI requires a thorough understanding of the condition. METHODS: To describe the genetic composition and presentations of PAI. The following data were collected retrospectively from 111 patients with non-21OHD with defined genetic diagnoses: demographic information, onset age, clinical manifestations, laboratory findings and genetic results...
August 16, 2023: Journal of Medical Genetics
#11
JOURNAL ARTICLE
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Giorgia Carboni, Alka Seth, Roberta Zuntini, Emanuele Coccia, Guja Astrea, Anne-Marie Bisgaard, Ivan Ivanovski, Silvia Maitz, Elise Brischoux-Boucher, Melissa T Carter, Maria Lisa Dentici, Koenraad Devriendt, Melissa Bellini, Maria Cristina Digilio, Asif Doja, David A Dyment, Stense Farholt, Carlos R Ferreira, Lynne A Wolfe, William A Gahl, Maria Gnazzo, Himanshu Goel, Sabine Weller Grønborg, Trine Hammer, Lorenzo Iughetti, Tjitske Kleefstra, David A Koolen, Francesca Romana Lepri, Gabrielle Lemire, Pedro Louro, Gary McCullagh, Simona F Madeo, Annarita Milone, Roberta Milone, Jens Erik Klint Nielsen, Antonio Novelli, Charlotte W Ockeloen, Rosario Pascarella, Tommaso Pippucci, Ivana Ricca, Stephen P Robertson, Sarah Sawyer, Marie Falkenberg Smeland, Sander Stegmann, Constanze T Stumpel, Amy Goel, Juliet M Taylor, Domenico Barbuti, Annarosa Soresina, Maria Francesca Bedeschi, Roberta Battini, Anna Cavalli, Carlo Fusco, Maria Iascone, Lionel Van Maldergem, Sunita Venkateswaran, Orsetta Zuffardi, Samantha Vergano, Livia Garavelli, Allan Bayat
BACKGROUND: KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined. METHODS: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network...
August 16, 2023: Journal of Medical Genetics
#12
JOURNAL ARTICLE
Claire L Shovlin, Fatma I Almaghlouth, Ali Alsafi, Nicola Coote, Catherine Rennie, Gillian Mf Wallace, Fatima S Govani, Genomics England Research Consortium
No abstract text is available yet for this article.
August 16, 2023: Journal of Medical Genetics
#13
JOURNAL ARTICLE
Julie Plaisancié, Jelena Martinovic, Bertrand Chesneau, Sandra Whalen, Diana Rodriguez, Séverine Audebert-Bellanger, Pauline Marzin, Sarah Grotto, Isabelle Perthus, Richard James Holt, Dorine A Bax, Nicola Ragge, Nicolas Chassaing
BACKGROUND: The retinoic acid (RA) pathway plays a crucial role in both eye morphogenesis and the visual cycle. Individuals with monoallelic and biallelic pathogenic variants in retinol-binding protein 4 ( RBP4 ), encoding a serum retinol-specific transporter, display variable ocular phenotypes. Although few families have been reported worldwide, recessive inherited variants appear to be associated with retinal degeneration, while individuals with dominantly inherited variants manifest ocular development anomalies, mainly microphthalmia, anophthalmia and coloboma (MAC)...
August 16, 2023: Journal of Medical Genetics
#14
JOURNAL ARTICLE
Panagiotis Baliakas, Arielle R Munters, Anders Kämpe, Bianca Tesi, Marie-Louise Bondeson, Claes Ladenvall, Daniel Eriksson
BACKGROUND: Low-impact genetic variants identified in population-based genetic studies are not routinely measured as part of clinical genetic testing in familial breast cancer (BC). We studied the consequences of integrating an established Polygenic Risk Score (PRS) (BCAC 313, PRS313 ) into clinical sequencing of women with familial BC in Sweden. METHODS: We developed an add-on sequencing panel to capture 313 risk variants in addition to the clinical screening of hereditary BC genes...
August 14, 2023: Journal of Medical Genetics
#15
JOURNAL ARTICLE
Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Geneviève, Flavien Rouxel, Denis Morin, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Wesley Patterson, Raymond Louie, Filippo Pinto E Vairo, Eric Klee, Charu Kaiwar, Ralitza H Gavrilova, Katherine E Agre, Sebastien Jacquemont, Jizi Khadijé, Jacques Giltay, Koen van Gassen, Gabriella Merő, Erica Gerkes, Bregje W Van Bon, Tuula Rinne, Rolph Pfundt, Han G Brunner, Oana Caluseriu, Ute Grasshoff, Martin Kehrer, Tobias B Haack, Melik Malek Khelifa, Anke Katharina Bergmann, Anna Maria Cueto-González, Ariadna Campos Martorell, Shwetha Ramachandrappa, Lindsey B Sawyer, Pascale Fasel, Dominique Braun, Atallah Isis, Andrea Superti-Furga, Vanda McNiven, David Chitayat, Syed Anas Ahmed, Heiko Brennenstuhl, Eva Mc Schwaibolf, Gladys Battisti, Benoit Parmentier, Servi J C Stevens
BACKGROUND: Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the ZNF148 gene causing GDACCF syndrome (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies; MIM #617260) have been reported in five individuals so far. METHODS: As a result of an international collaboration using GeneMatcher Phenome Central Repository and personal communications, here we describe the clinical and molecular genetic characteristics of 22 previously unreported individuals...
August 14, 2023: Journal of Medical Genetics
#16
JOURNAL ARTICLE
A Rachel Moore, Jing Yu, Yang Pei, Emily W Y Cheng, Ana Lisa Taylor Tavares, Woolf T Walker, N Simon Thomas, Arveen Kamath, Rita Ibitoye, Dragana Josifova, Anna Wilsdon, Alison Ross, Alistair D Calder, Amaka C Offiah, Andrew O M Wilkie, Jenny C Taylor, Alistair T Pagnamenta
BACKGROUND: Current clinical testing methods used to uncover the genetic basis of rare disease have inherent limitations, which can lead to causative pathogenic variants being missed. Within the rare disease arm of the 100 000 Genomes Project (100kGP), families were recruited under the clinical indication 'single autosomal recessive mutation in rare disease'. These participants presented with strong clinical suspicion for a specific autosomal recessive disorder, but only one suspected pathogenic variant had been identified through standard-of-care testing...
August 9, 2023: Journal of Medical Genetics
#17
JOURNAL ARTICLE
Eungjun Yoon, Jong Kwon Lee, Taek Kyu Park, Sung-A Chang, June Huh, Jong-Won Kim, Duk-Kyung Kim, Ja-Hyun Jang
BACKGROUND: Despite the 2015 American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) guideline, many variants of FBN1 gene remain inconclusive. In line with publication of the FBN1- specific variant interpretation guideline by ClinGen in 2022, we reassessed variants of uncertain significance (VUS) in FBN1 gene found in our institution. METHODS: VUS found in the course of FBN1 sequencing between December 2015 and April 2022 were reassessed based on FBN1 -specific variant interpretation guideline, review of updated literatures and additional genetic tests including family study and/or RNA study if available...
August 9, 2023: Journal of Medical Genetics
#18
JOURNAL ARTICLE
Jessica Le Gall, Catherine Dehainault, Matteo Boutte, Ambre Petitalot, Sandrine M Caputo, Laura Courtois, Sophie Vacher, Ivan Bieche, François Radvanyi, Hélène Pacquement, François Doz, Livia Lumbroso-Le Rouic, Marion Gauthier Villars, Dominique Stoppa-Lyonnet, François Lallemand, Claude Houdayer, Lisa Golmard
About half of the human genome is composed of repeated sequences derived from mobile elements, mainly retrotransposons, generally without pathogenic effect. Familial forms of retinoblastoma are caused by germline pathogenic variants in RB1 gene. Here, we describe a family with retinoblastoma affecting a father and his son. No pathogenic variant was identified after DNA analysis of RB1 gene coding sequence and exon-intron junctions. However, RB1 mRNA analysis showed a chimeric transcript with insertion of 114 nucleotides from HPF1 gene inside RB1 gene...
August 4, 2023: Journal of Medical Genetics
#19
JOURNAL ARTICLE
Cristina Fortuno, Marcy Richardson, Tina Pesaran, Amal Yussuf, Carolyn Horton, Paul A James, Amanda B Spurdle
The gene-disease relationship for CHEK2 remains listed as 'Li-Fraumeni syndrome 2' in public resources such as OMIM and MONDO, despite published evidence to the contrary, causing frustration among Li-Fraumeni syndrome (LFS) clinical experts. Here, we compared personal cancer characteristics of 2095 CHEK2 and 248 TP53 pathogenic variant carriers undergoing multigene panel testing at Ambry Genetics against 15 135 individuals with no known pathogenic variant. Our results from a within-cohort logistic regression approach highlight obvious differences between clinical presentation of TP53 and CHEK2 pathogenic variant carriers, with no evidence of CHEK2 being associated with any of the TP53 -related core LFS cancers...
August 3, 2023: Journal of Medical Genetics
#20
JOURNAL ARTICLE
Nathalia de Angelis de Carvalho, Karina Miranda Santiago, Joyce Maria Lisboa Maia, Felipe D'Almeida Costa, Maria Nirvana Formiga, Diogo Cordeiro de Queiroz Soares, Daniele Paixão, Celso Abdon Lopes de Mello, Cecilia Maria Lima da Costa, José Claudio Casali da Rocha, Barbara Rivera, Dirce Maria Carraro, Giovana Tardin Torrezan
BACKGROUND: Sarcomas are a rare and diverse group of cancers occurring mainly in young individuals for which an underlying germline genetic cause remains unclear in most cases. METHODS: Germline DNA from 177 children, adolescents and young adults with soft tissue or bone sarcomas was tested using multigene panels with 113 or 126 cancer predisposing genes (CPGs) to describe the prevalence of germline pathogenic/likely pathogenic variants (GPVs). Subsequent testing of a subset of tumours for loss of heterozygosity (LOH) evaluation was performed to investigate the clinical and molecular significance of these variants...
August 3, 2023: Journal of Medical Genetics
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