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Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 12, 2023 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Novel heterozygous variants in the EP300 gene cause Rubinstein –Taybi syndrome 2: Reports from two Chinese children
ConclusionIn our study, we identified two novel variants in theEP300 exon 22, and for the first time, we reported a case of RSTS2 associated with adrenal insufficiency, which will enrich the clinical and mutational spectrum of this syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 11, 2023 Category: Genetics & Stem Cells Authors: Caiqi Du, Zhuoguang Li, Biao Zou, Xuesong Li, Fan Chen, Yan Liang, Xiaoping Luo, Sainan Shu Tags: ORIGINAL ARTICLE Source Type: research

A homozygous EVC mutation in a prenatal fetus with Ellis –van Creveld syndrome
ConclusionThis is the first reported case of EvC syndrome based on a splicing variant and detailed delineation of the aberrant splicing effect in the fetus. Our study demonstrates the pathogenesis of this new variant, expands the spectrum ofEVC mutations, and demonstrates that WES is a powerful tool in the clinical diagnosis of diseases with genetic heterogeneity. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 9, 2023 Category: Genetics & Stem Cells Authors: Jie Wang, Xiaohua Wang, Yueqi Jia, Xiangnan Li, Guohui Liu, Rula Sa, Haiquan Yu Tags: ORIGINAL ARTICLE Source Type: research

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera
ConclusionThese two variant alleles further document the complex nature of RCCX modules and highlight that not allCYP21A1P/CYP21A2 chimera severely impair 21OH activity. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 9, 2023 Category: Genetics & Stem Cells Authors: Qizong Lao, Deepika D. Burkardt, Sarah Kollender, Fabio R. Faucz, Deborah P. Merke Tags: CLINICAL REPORT Source Type: research

Examining neurodevelopmental problems in 15q11.2 (BP1 ‐BP2) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample
ConclusionsOur results support previous findings that carrying 15q11.2 deletion does not have a large effect on NDPs in children. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 9, 2023 Category: Genetics & Stem Cells Authors: Lina Jonsson, Joanna Martin, Paul Lichtenstein, Patrik K. E. Magnusson, Sebastian Lundstr öm, Lars Westberg, Kristiina Tammimies Tags: ORIGINAL ARTICLE Source Type: research

Correction to “A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype”
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2023 Category: Genetics & Stem Cells Tags: CORRECTION Source Type: research

Association of single nucleotide polymorphisms with dyslipidemia and risk of metabolic disorders in the State of Qatar
ConclusionThe current investigation provides evidence of association for a common SNP to coronary heart disease and suggests a sex-dependent effect and encourage potential therapeutic applications. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2023 Category: Genetics & Stem Cells Authors: Dalal Al ‐Sharshani, Dinesh Velayutham, Muthanna Samara, Reham Gazal, Ayman Al Haj Zen, Mohamed A. Ismail, Mahmoud Ahmed, Gheyath Nasrallah, Salma Younes, Nasser Rizk, Sara Hammuda, M. Walid Qoronfleh, Thomas Farrell, Hatem Zayed, Palli Tags: ORIGINAL ARTICLE Source Type: research

Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population
ConclusionsThese findings provided with the first exonic deletion and first splice site variant inDHODH, which expanded the mutation spectrum of Miller syndrome and offered reliable evidence for genetic counseling to the affected family. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 1, 2023 Category: Genetics & Stem Cells Authors: Kai Yang, Li ‐Man Fu, Xiao‐Yang Chu, Jing Zhang, Wen‐Qi Chen, You‐Sheng Yan, Yi‐Peng Wang, Dong‐Liang Zhang, Cheng‐Hong Yin, Qing Guo Tags: CLINICAL REPORT Source Type: research

New insights into X ‐linked adrenal hypoplasia congenita from a novel splice‐site variant of NR0B1 and adrenal CT images
ConclusionX-linked adrenal hypoplasia congenita is produced by variants ofNR0B1. We report a case that presents a novel splice-site variant, which has been verified that it could lead to the exon 2 skipping in the RNA splicing progress. Moreover, we report the adrenal CT image change of patient 2, which has never been referred to before, and expand the spectrum of X-linked AHC characteristics. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 29, 2023 Category: Genetics & Stem Cells Authors: Yuqing Jiang, Huifang Peng, Rui Zhao, Yina Chang, Jie Liu, Liujun Fu, Liping Li, Yujin Ma, Wei Li, Hongwei Jiang Tags: CLINICAL REPORT Source Type: research

A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene
We report a case of infantile Barth syndrome with severe heart failure and lactic acidosis, having a missense c.640C>T (p.His214Tyr) variant in TAZ gene. Silico prediction analysis suggested that c.640C>T could alter the TAZ mRNA splicing process. TAZ mRNAs and in vitro splicing analysis using minigenes of TAZ found an 8  bp deletion at the 3′ end of exon 8, which resulted in the formation of a termination codon in the coding region of exon 9 (H214Nfs*3). These findings suggest that splicing abnormalities should always be considered in Barth syndrome. AbstractBarth syndrome (BTHS) is an X-linked disorder characte...
Source: Molecular Genetics & Genomic Medicine - April 26, 2023 Category: Genetics & Stem Cells Authors: Atsuhito Takeda, Masahiro Ueki, Jiro Abe, Kazuhiro Maeta, Tomoko Horiguchi, Hirokuni Yamazawa, Gaku Izumi, Ayako Chida ‐Nagai, Daisuke Sasaki, Takao Tsujioka, Itsumi Sato, Masahiro Shiraishi, Masafumi Matsuo Tags: CLINICAL REPORT Source Type: research

Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature review
ConclusionsOur study reported a rare case of juvenile arthritis, which is due to the compound heterozygous mutation ofLACC1, including a new novel frameshift mutation c.446_449dupTAAA, andLACC1 C297R variant causes disease by potentially modifying the local conformation of proteins. The clinical and genetic findings in our study show thatLACC1-JA is highly heterogeneous, and gene testing is required for juvenile arthritis patients with a high inflammatory response at a young onset age. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 26, 2023 Category: Genetics & Stem Cells Authors: Yali Wu, Shasha Wang, Wen Yin, Wei Yin, Yan Ding Tags: ORIGINAL ARTICLE Source Type: research

Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder
ConclusionsThis study confirms the satisfactory diagnostic yield of aCGH, underscoring its potential for better, more in-depth care of children with autism when genetic results are analyzed also with a focus on patient management. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 26, 2023 Category: Genetics & Stem Cells Authors: Francesca Cucinotta, Carla Lintas, Pasquale Tomaiuolo, Marco Baccarin, Chiara Picinelli, Paola Castronovo, Roberto Sacco, Ignazio Stefano Piras, Laura Turriziani, Arianna Ricciardello, Maria Luisa Scattoni, Antonio M. Persico Tags: ORIGINAL ARTICLE Source Type: research

Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth
ConclusionSequential application of CNV-seq and QF-PCR is an economic and practical strategy to identify chromosomal abnormalities in fetal tissue. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 19, 2023 Category: Genetics & Stem Cells Authors: Quan Chen, Hao Zhang, Xue Li, Junxing Li, Huijuan Chen, Lin Liu, Shijie Zhou, Zhihong Xu Tags: ORIGINAL ARTICLE Source Type: research

Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G > A in Western Guangdong
ConclusionWe found the pathogenic mutation spectrum ofGJB2 in this region and showed that c.109G>A was the most commonGJB2 mutation with unique characteristics, such as clinical phenotypic heterogeneity and delayed onset. Therefore, the c.109G>A mutation should be considered as an essential marker for routine genetic assessment of deafness, which can also be beneficial for preventing deafness. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 18, 2023 Category: Genetics & Stem Cells Authors: Shaoming Liang, Weihong Li, Zhichao Chen, Shimin Yuan, Zhao Wang Tags: ORIGINAL ARTICLE Source Type: research

A novel de novo TP63 mutation in whole ‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly
ConclusionTP63 mutations are associated with multiple autosomal dominant orofacial clefting and limb malformation disorders. The p.Arg319Leu mutation seen in this patient is de novo but also novel. Two known mutations in the same codon (c.956G  >  A, p.(Arg319His; rs121908839, c.955C >  T), p.Arg319Cys) cause ectrodactyly, providing evidence that mutating this codon is deleterious. While thisTP63 mutation is the best candidate for the patient's clinical presentation, whether it is responsible for the entire phenotype is unclear. Generation and characterization oftp63 knockout zebrafish showed necrosis and rup...
Source: Molecular Genetics & Genomic Medicine - April 18, 2023 Category: Genetics & Stem Cells Authors: Claire L. Simpson, Danielle C. Kimble, Settara C. Chandrasekharappa, NISC Comparative Sequencing Program, Khalid Alqosayer, Emily Holzinger, Blake Carrington, John McElderry, Raman Sood, Ghiath Al ‐Souqi, Hasan Albacha‐Hejazi, Joan E. Baile Tags: ORIGINAL ARTICLE Source Type: research