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.

Clinically actionable secondary findings in 130 triads from sub ‐Saharan African families with non‐syndromic orofacial clefts
ConclusionThis study provides information on the frequency and pathogenicity of SFs in an African cohort. Early risk detection will help reduce disease burden and contribute to efforts to increase knowledge of the distribution and impact of actionable genomic variants in diverse populations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 27, 2023 Category: Genetics & Stem Cells Authors: Abimbola Oladayo, Lord Jephthah Joojo Gowans, Waheed Awotoye, Azeez Alade, Tamara Busch, Thirona Naicker, Mekonen A. Eshete, Wasiu L. Adeyemo, Jacqueline B. Hetmanski, Erliang Zeng, Olawale Adamson, Chinyere Adeleke, Mary Li, Veronica Sule, Tags: ORIGINAL ARTICLE Source Type: research

Identification of a de novo variant in the ASXL2 gene related to Shashi ‐Pena syndrome
ConclusionsOur study further expanded the spectrum of phenotypes and genetic variations of the syndrome, and we believe that it is necessary to screen theASXL2 gene in patients with DD and cardiac and bone disorders. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 26, 2023 Category: Genetics & Stem Cells Authors: Yanyan Zheng, Le Yang, Mengmeng Niu, Siyu Zhao, Lili Liang, Yan Wu, Taoli Li, Fan Yang, Zuozhen Yang, Yan Wang, Dong Wang Tags: ORIGINAL ARTICLE Source Type: research

Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C ‐reactive protein in white British population
ConclusionPA mutation burdens in theCRP andG6PC genes are strongly associated with decreased serum CRP concentrations. As serum CRP and obesity are important predictors of cardiovascular risks in clinics, our observations suggest taking rare genetic factors into consideration might improve the delivery of precision medicine. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 26, 2023 Category: Genetics & Stem Cells Authors: Xia Li, Alexander Ploner, Yunzhang Wang, Jonathan K. L. Mak, Yi Lu, Patrik K. E. Magnusson, Juulia Jylh ävä, Sara Hägg Tags: ORIGINAL ARTICLE Source Type: research

Compound heterozygous variants in CFTR with potentially reducing ATP ‐binding ability identified in Chinese infertile brothers with isolated congenital bilateral absence of vas deferens
ConclusionWe identified novel compound heterozygousCFTR mutations in two brothers and summarized the literature regardingCFTR mutation and male infertility. Our study may contribute to the genetic diagnosis of iCBAVD and future genetic counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 25, 2023 Category: Genetics & Stem Cells Authors: Shi Shengjia, Wang Lei, Wang Tianwei, Wang Hongmei, Shi Juanzi, Qiao Sen Tags: ORIGINAL ARTICLE Source Type: research

A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus
ConclusionThis report enhances our knowledge of genetic and phenotypic characteristics of X-linked fetal hydrocephalus, providing a new genetic basis for prenatal diagnosis and pre-implantation prenatal diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 25, 2023 Category: Genetics & Stem Cells Authors: Tiantian He, Qiang Yao, Bocheng Xu, Mei Yang, Jieni Jiang, Qingqing Xiang, Like Xiao, Shanling Liu, He Wang, Xuemei Zhang Tags: CLINICAL REPORT Source Type: research

Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders
ConclusionWe established a workflow allowing for a “one-stop” collaborative assessments by experts of multiple fields and helps for correct the diagnosis of cases with falsenegative and −positive and VUS genetic reports and may have significant influences for intervention, prevention and genetic counseling of pediatric epilepsy and neurodevelo pmental disorders. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 25, 2023 Category: Genetics & Stem Cells Authors: Liping Zhang, Xu ‐Ying Li, Fanxi Xu, Lehong Gao, Zhanjun Wang, Xianling Wang, Xian Li, Mengyu Liu, Junge Zhu, Tingyan Yao, Jing Ye, Xiao‐Hong Qi, Yaqing Wang, Guoguang Zhao, Chaodong Wang, The Xuanwu Molecular Counselling Group for Neur Tags: ORIGINAL ARTICLE Source Type: research

RNA sequencing resolves novel DYNC2H1 variants causing short ‐rib thoracic dysplasia type 3: Case report
ConclusionThis case demonstrates the diagnostic utility of RNA-Seq for variant interpretation following inconclusive clinical testing, which can ultimately lead to diagnosis for patients with rare disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 25, 2023 Category: Genetics & Stem Cells Authors: Aren E. Marshall, Stella K. MacDonald, Yijing Liang, Madeline Couse, Care4Rare Canada Consortium, Kym M. Boycott, Julie Richer, Kristin D. Kernohan Tags: CLINICAL REPORT Source Type: research

Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient
ConclusionWe described a 6-month-old Chinese child with global developmental delay caused by pathogenic de novo mutation c.1845_1870del26 (p.G616Sfs*61) in theSON. Apart from a founder mutation, we reviewed the phenotypic abnormalities and genotypes in 79 individuals. The data showed that global developmental delay is accompanied by other system disorders. Our findings expanded the mutational spectrum of ZTTK syndrome and provide genetic counseling of baby with global developmental delay. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 25, 2023 Category: Genetics & Stem Cells Authors: Shuo Tang, Jieyu You, Li Liu, Hongjuan Ouyang, Na Jiang, Jiaqi Duan, Canlin Li, Yanhong Luo, Wenting Zhang, Meizheng Zhan, Chenxi Liu, Gui ‐Zhen Lyu, Victor Wei Zhang, Hongmei Zhao Tags: CLINICAL REPORT Source Type: research

Haplotypes of [ ‐794(CATT)5–8/‐173G > C] MIF gene polymorphisms and its soluble levels in cutaneous squamous cell carcinoma in western Mexican population
ConclusionsOur findings suggest that 5C and 7G [-794(CATT)5 –8/-173G>C]MIF gene haplotypes are associated with susceptibility to SCC and that SCC patients present increased soluble levels of MIF. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 24, 2023 Category: Genetics & Stem Cells Authors: Elizabeth Guevara ‐Gutiérrez, Marina Ramos‐Súarez, Romina Angélica Villalobos‐Ayala, Alberto Tlacuilo‐Parra, José Francisco Muñoz‐Valle, Victor Tarango‐Martínez, Yeminia Valle, Jorge Ramón Padilla‐Gutiérrez, José Manuel Roja Tags: ORIGINAL ARTICLE Source Type: research

A de novo variant of BICRA results in Coffin –Siris syndrome 12
ConclusionOur results expanded the pathogenic genetic and clinical spectrum of BICRA-related diseases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 24, 2023 Category: Genetics & Stem Cells Authors: Youquan Tu, Chunyan Fang, Jian Xu, Yun Zhou, Mengmeng Liang, Zuozhen Yang Tags: CLINICAL REPORT Source Type: research

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis ‐van Creveld syndrome
ConclusionsThe study is the first to identify two rare compound variants inEVC2 gene in a Chinese family using whole exome sequencing. The application of whole-exome sequencing would be helpful in fetal etiological diagnosis with ultrasound anomalies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 24, 2023 Category: Genetics & Stem Cells Authors: Jianlong Zhuang, Shufen Liu, Junyu Wang, Yu'e Chen, Hegan Zhang, Yuying Jiang, Gaoxiong Wang, Chunnuan Chen Tags: CLINICAL REPORT Source Type: research

11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four ‐way balanced chromosomal translocation
ConclusionsOur case highlights the importance of timely parental origin testing for patients with rare copy number variations, as well as the accurate characterization of balanced chromosomal rearrangements in families with reproductive problems. In addition, our case demonstrates that OGM is a useful clinical application for analyzing complex structural variations within the human genome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 21, 2023 Category: Genetics & Stem Cells Authors: Qinxin Zhang, Yan Wang, Jing Zhou, Ran Zhou, An Liu, Lulu Meng, Xiuqing Ji, Ping Hu, Zhengfeng Xu Tags: CLINICAL REPORT Source Type: research

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review
ConclusionThis is the first report of a de novo, autosomal dominant pattern ofFOXJ1 causing PCD combined with hydrocephalus in China. The patient's clinical symptoms were similar to those previously reported. WES confirmed that a novel variant ofFOXJ1 was the cause of the PCD combined with hydrocephalus, expanding the spectrum of the genotypes associated with this condition. Physicians should be aware of the correlation of hydrocephalus and PCD and test forFOXJ1 variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 20, 2023 Category: Genetics & Stem Cells Authors: Shiyang Gao, Qianwen Zhang, Biyun Feng, Shili Gu, Zhiying Li, Lianping Sun, Ru ‐en Yao, Tingting Yu, Yu Ding, Xiumin Wang Tags: CLINICAL REPORT Source Type: research

Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis
ConclusionThese findings expand the variant spectrum ofKCNJ16, enrich the clinical characteristics of HKTD, and provide a solid base for the genetic counseling, diagnosis and treatment of this condition. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 19, 2023 Category: Genetics & Stem Cells Authors: Jianxiong Chen, Youqing Fu, Yan Sun, Xinlong Zhou, Qingming Wang, Cong Li, Haiming Yuan Tags: ORIGINAL ARTICLE Source Type: research

Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency
ConclusionCompound heterozygous or homozygous mutations in the coding region of PKLR gene are the causes of PKD in these four Chinese children. The second-generation sequencing technology is an effective means to diagnose PKD. The mutations of c.457-c.462delATCGCC, c.1297T>C, c.1096C>T and Exon4-10del of PKLR reported in this article have not been included in the Thousand Genome Database, dbSNP(v138) and ExAC Database. The PKLR gene mutations found in these children with PKD can provide references for further research of the genetic characteristics of PKD and subsequent gene therapy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 19, 2023 Category: Genetics & Stem Cells Authors: Fei Xie, Lu Gan, Lei Lei, Tengguang Cai, Yu Gao, Xiaoying Liu, Bin Cai, Lin Zhou Tags: ORIGINAL ARTICLE Source Type: research