Molecular Genetics & Genomic Medicine This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Malformations of cortical development: Fetal imaging and genetics
ConclusionThe results suggest that genetic testing, especially WES, should be performed for fetal MCD, in order to evaluate the outcomes and prognosis, and predict the risk of recurrence in future pregnancies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 18, 2024 Category: Genetics & Stem Cells Authors: Lin ‐Lin Wang, Ping‐Shan Pan, Hui Ma, Chun He, Zai‐Long Qin, Wei He, Jing Huang, Shu‐Yin Tan, Da‐Hua Meng, Hong‐Wei Wei, Ai‐Hua Yin Tags: ORIGINAL ARTICLE Source Type: research

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database
ConclusionsAnalysis of Asx and Asx/Sym females with OTCD in this study suggests that future evidence-based management guidelines and/or a clinical risk score calculator for this cohort could be useful management tools to reduce morbidity and improve long-term quality of life. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 18, 2024 Category: Genetics & Stem Cells Authors: Kuntal Sen, Rima Izem, Yuelin Long, Jiji Jiang, Laura L. Konczal, Robert J. McCarter, Members of the Urea Cycle Disorders Consortium (UCDC), Nicholas Ah Mew, Matthias R. Baumgartner, Gerard Berry, Susan A. Berry, Peter Burgard, Lindsay C. Burr Tags: ORIGINAL ARTICLE Source Type: research

Association of a genetic variant in angiopoietin ‐like 3 with serum HDL‐C and risk of cardiovascular disease: A study of the MASHAD cohort over 6 years
ConclusionWe have found that a rs10789117 C>A in ANGPTL3 gene polymorphism was associated with incident CVD events, and this may be of value as a risk stratification biomarker in CVD in the Iranian population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 18, 2024 Category: Genetics & Stem Cells Authors: Malihe Aghasizadeh, Asieh Ahmadi  Hoseini, Reza Sahebi, Tooba Kazemi, Parisa Asadiyan‐Sohan, Habibollah Esmaily, Sara Samadi, Amir Avan, Gordon A. Ferns, Saeede Khosravi, Hamideh Ghazizadeh, Ebrahim Miri‐Moghaddam, Majid Ghayour‐Mobarha Tags: ORIGINAL ARTICLE Source Type: research

Reclassification of a spindle cell sarcoma after identification of a TFG ‐ROS1 fusion: A case demonstrating the clinical benefit of next‐generation sequencing in sarcoma
ConclusionsWe discuss the role of NGS as well as its potential benefit in patients with unresectable,ALK-negative metastatic disease. Considering this case and previous literature, we support the use of NGS for patients requiring systemic treatment. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 16, 2024 Category: Genetics & Stem Cells Authors: John J. Lim, Eleanor Y. Chen, Stephanie K. Schaub, Michael J. Wagner Tags: CLINICAL REPORT Source Type: research

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2
ConclusionWe described a CDG patient with novel phenotypes and disruptive N-glycan profiling caused by compound heterozygousMAN2B2 variants (c.384G>T; c.926T>A). Our findings broadened both the genetic and clinical spectra of CDG. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 16, 2024 Category: Genetics & Stem Cells Authors: Shiqi Fan, Huanhuan Wu, Rongrong Wang, Qian Chen, Xue Zhang Tags: CLINICAL REPORT Source Type: research

Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population
In this study, 6 different mutations were identified in the patients, including 5 in the AQP2 gene (c.439G>A, c.538G>A, c.140C>T, c.450T>A, and the novel c.668T>C) and 1 in the AVPR2 gene (c.337C>T) in the present study.DiscussionAs expected, all the detected mutations in this study were missense. According to the ACMG guideline, the identified mutations were categorized as pathogenic or likely pathogenic. Unlike previous studies which showed more than 90% of mutations were in theAVPR2 gene, and only less than 10% of the mutations were in theAQP2 gene, it was found that more than 90% of our identified mut...
Source: Molecular Genetics & Genomic Medicine - April 16, 2024 Category: Genetics & Stem Cells Authors: Saeed Ghasemi, Marzieh Mojbafan, Saeed Talebi, Nakysa Hooman, Rozita Hoseini Tags: ORIGINAL ARTICLE Source Type: research

RARS1 ‐related hypomyelinating leukodystrophy‐9 (HLD‐9) in two distinct Iranian families: Case report and literature review
ConclusionPathogenic variants inRARS1 decrease ArgRS activity and cause a wide range of symptoms, from severe, early onset epileptic encephalopathy with brain atrophy to a mild condition with relatively maintained myelination. These symptoms include the classic hypomyelination presentation with nystagmus and spasticity. Furthermore, the pathogenicity of the variation c.2T>C (p.Met1Thr) has been shown. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 15, 2024 Category: Genetics & Stem Cells Authors: Sajjad Biglari, Hassan Vahidnezhad, Mohammad Amin Tabatabaiefar, Hamid Reza Khorram  Khorshid, Emran Esmaeilzadeh Tags: REVIEW ARTICLE Source Type: research

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature
ConclusionAs with other studies examining familial cases of ARCND2, incomplete penetrance and variable expressivity were observed within different families' heterozygous mutations inPLCB4 gene. Although, motor and intellectual development are in the normal range in the vast majority of patients with ARCND2, long-term follow-up and assessment are still required. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 15, 2024 Category: Genetics & Stem Cells Authors: Yongli Zhang, Yuwei Zhao, Liying Dai, Yu Liu, Zifeng Shi Tags: ORIGINAL ARTICLE Source Type: research

Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review
ConclusionOur study achieves a new understanding of the phenotypic spectrum, diagnosis, and management of individuals withACAN variants. No clear genotype –phenotype relationship of patients withACAN variants was found. Gene sequencing is necessary to diagnoseACAN variants that cause short stature. In general, appropriate rhGH and/or GnRHa therapy can improve the adult height of affected pediatric patients caused byACAN variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 13, 2024 Category: Genetics & Stem Cells Authors: Wei Tang, Ke ‐Mi Wu, Qiong Zhou, Yan‐Fei Tang, Jun‐Fen Fu, Guan‐Ping Dong, Chao‐Chun Zou Tags: ORIGINAL ARTICLE Source Type: research

Further delineation of phenotype and genotype of Kenny –Caffey syndrome type 2 (phenotype and genotype of KCS type 2)
ConclusionWe provide detailed characteristics of the largest KCS2 group in China and present the first genetically confirmed instance of father-to-daughter transmission of KCS2. Our study confirms that Arg569His is the hot spot variant and summarizes the typical phenotypes of KCS2, which would help early diagnosis and intervention. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 9, 2024 Category: Genetics & Stem Cells Authors: Xuefei Chen, Chaochun Zou Tags: ORIGINAL ARTICLE Source Type: research

A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review
ConclusionsThe patient was twice diagnosed with cardiac insufficiency, neglecting the usual manifestations of muscle weakness, resulting in misdiagnosis. Later, novel variants in theRBCK1 gene were discovered through whole-exome sequencing, and symptomatic treatment was given after diagnosis. The importance of whole-exome sequencing technology in disease diagnosis and genetic counseling was emphasized. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 8, 2024 Category: Genetics & Stem Cells Authors: Qiqing Sun, Zhenhua Xie, Lifang Song, Dapeng Fu Tags: CLINICAL REPORT Source Type: research

The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling
ConclusionAlong with an increase in diagnostic rates, OGM can rapidly highlight genotype –phenotype correlations, improve genetic counselling and significantly influence prenatal management. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 8, 2024 Category: Genetics & Stem Cells Authors: Malek Bouassida, Denise Molina ‐Gomes, Fairouz Koraichi, Bérénice Hervé, Morgane Lhuilier, Clémence Duvillier, Jessica Le Gall, Marion Gauthier‐Villars, Valérie Serazin, Thibaud Quibel, Rodolphe Dard, François Vialard Tags: ORIGINAL ARTICLE Source Type: research

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature
ConclusionAll three patients exhibited variable phenotypes and disease severity. This research enriches our understanding of clinical and genetic aspects of CIPA, highlighting variable phenotypes and disease severity. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 6, 2024 Category: Genetics & Stem Cells Authors: Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi ‐Sun Yum, Go Hun Seo, June‐Young Koh, Young Seok Ju, Ji‐Hee Yoon, Minji Kang, Hyo‐Sang Do, Soyoung Kim, Gu‐Hwan Kim, Hyunwoo Bae, Beom Hee Lee Tags: ORIGINAL ARTICLE Source Type: research

Autism spectrum disorder profiles in RASopathies: A  systematic review
ConclusionsOur systematic review found no convincing evidence for a specific ASD profile in RASopathies compared to iASD, or in a specific RASopathy compared to other RASopathies. However, we identified important limitations in the research literature which may also account for this result. These limitations are discussed and recommendations for future research are formulated. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 6, 2024 Category: Genetics & Stem Cells Authors: Edward Debbaut, Jean Steyaert, Mouna El  Bakkali Tags: REVIEW ARTICLE Source Type: research

Identification and validation of a novel anoikis ‐related prognostic model for prostate cancer
ConclusionsThe anoikis-related prognostic model developed in this study could be a useful tool for clinical decision-making. This study may provide a new perspective for the treatment of anoikis-related PCa. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 5, 2024 Category: Genetics & Stem Cells Authors: Peipei Zhang, Wenzhi Lv, Yang Luan, Wei Cai, Xiangde Min, Zhaoyan Feng Tags: ORIGINAL ARTICLE Source Type: research