Molecular Genetics & Genomic Medicine 
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(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2023 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research
Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy
ConclusionThis deletion inKAT6B may affect protein function and cause corresponding clinical symptoms through interactions with key complexes and downstream products. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 9, 2023 Category: Genetics & Stem Cells Authors: Xiaoang Sun,
Xiaona Luo,
Longlong Lin,
Simei Wang,
Chunmei Wang,
Fang Yuan,
Xiaoping Lan,
Jingbin Yan,
Yucai Chen Tags: ORIGINAL ARTICLE Source Type: research
Alpha ‐enolase 1 knockdown facilitates the proliferation and invasion of villous trophoblasts by upregulating COX‐2
ConclusionENO1 may participate in the development of RM via suppressing the growth and invasion of villous trophoblasts via reducing the expression of COX-2, c-Myc, and cyclin D1. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 8, 2023 Category: Genetics & Stem Cells Authors: Huaiyun Tang,
Linqing Pan,
Lisha Tang,
Jiayin Liu Tags: ORIGINAL ARTICLE Source Type: research
Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease
ConclusionWe propose possible mechanisms of mutations associated with haploinsufficiency ofLAMP2: (1) The inactivation X chromosome carrying the mutation was not significantly skewed. However, it decreased in the mRNA level and the expression ratio of the mutant transcripts; (2) The identified mutation is null, and the active mutant transcript fails to translate into the normalLAMP2 proteins. The presence of haploinsufficiency inLAMP2 and the X chromosome inactivation pattern were crucial factors contributing to the early onset of Danon disease in this female patient. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 8, 2023 Category: Genetics & Stem Cells Authors: Yongxiang Wang,
Ming Bai,
Piyi Zhang,
Yu Peng,
Zixian Chen,
Zhiyu He,
Jin Xu,
Youqi Zhu,
Dongdong Yan,
Runqing Wang,
Zheng Zhang Tags: ORIGINAL ARTICLE Source Type: research
Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia
ConclusionThis study provides evidence of clinically meaningful improvements by shifting only bedtime regular CS to ER-CS in patients with GSDIa. As ER-CS is considerably more expensive than regular CS, this approach presents a cost-effective alternative. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 6, 2023 Category: Genetics & Stem Cells Authors: Rai ‐Hseng Hsu,
Hui‐An Chen,
Yin‐Hsiu Chien,
Wuh‐Liang Hwu,
Ju‐Li Lin,
Hui‐Ling Weng,
Yi‐Ting Lin,
Yu‐Ching Lin,
Ni‐Chung Lee Tags: ORIGINAL ARTICLE Source Type: research
Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non ‐coding sequence variant of PPP1R12A
ConclusionsTo our knowledge, this is the first clinical study on a rare variant ofPPP1R12A in the Chinese population. The c.2666+3A>G may lead to external genitalia malformation, such as congenital micropenis in male neonates. The results of this study further verified the correlation between GUBS andPPP1R12A haploinsufficiency and revealed the important role of a non-coding sequence variant in the pathogenesis of the disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 5, 2023 Category: Genetics & Stem Cells Authors: Yanxia Diao,
Weiwei Sun,
Zhen Zhang,
Bing Zhao,
Xin Chen Tags: ORIGINAL ARTICLE Source Type: research
A novel splice ‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review
ConclusionThis is the first case ofCHMP2B variant-associated FTD reported in the Chinese population. The novel c.532-2A>T variant in the acceptor splice site of exon 6 retaining intron 5 was predicted to cause truncated protein and protein conformation changes. This discovery may expand the genetic and phenotypic spectrum ofCHMP2B variant-associated FTD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 5, 2023 Category: Genetics & Stem Cells Authors: Chang Li,
Ya Wen,
Mengqiu Zhao,
Yaye Wang,
Ping Li,
Liang Wang,
Shan Wang Tags: CLINICAL REPORT Source Type: research
A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney disease
ConclusionsOur study revealed a novelPKD1 variant using ES as the cause of ADPKD in a Chinese family with multiple affected members. The variant at the exon-intron boundary would induce alternative splicing, which should not be excluded from genetic analysis. Validated on the cDNA level could provide more comprehensive genetic information for disease stratification. And the novel variant expands the spectrum ofPKD1 variants in ADPKD. The recurrent risk could be blocked accordingly for the families' offspring. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 5, 2023 Category: Genetics & Stem Cells Authors: Qianying Zhao,
Yu Tan,
Xiao Xiao,
Qinqin Xiang,
Mei Yang,
He Wang,
Shanling Liu Tags: CLINICAL REPORT Source Type: research
New insights from trio whole ‐exome sequencing in the children with kidney disease: A single‐center retrospective cohort study
ConclusionsThe retrospective cohort study summarized the clinical utility of genetic testing in 133 probands, and expanded the phenotypic and genetic profiles of kidney disease in children. Trio-WES is an efficient diagnostic tool for children with kidney disease, which facilitates the clinical diagnosis and treatment. Our findings have important implications for the precise diagnosis of childhood nephropathy and may provide clinical guideline for disease management. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 30, 2023 Category: Genetics & Stem Cells Authors: Yi Chen,
Yuanzhen Zhang,
Jun Huang,
Yugui Zeng,
Yifang Qian,
Junyan Chen,
Guangming Chen,
Guizhi Xia,
Chengfeng Wang,
Ai Feng,
Zheng Li,
Li Chen,
Sirui Zheng,
Fenrong Li,
Zengfeng Weng,
Chuanyin Zhang,
Yuen Yang,
Jinfeng Lin,
Jinrong Wu, Tags: ORIGINAL ARTICLE Source Type: research
Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep ‐intronic variant in a Chinese child with profound hearing loss
ConclusionOur genetic test results provided precise genetic counseling and prenatal diagnosis for this family, and our findings highlight the power of WGS for detecting deep-intronic variants in patients with undiagnosed rare diseases. Additionally, this case expands the variant spectrum of thePCDH15 gene and our results support the extremely low carrier frequency of c.733C>T in the Chinese population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 26, 2023 Category: Genetics & Stem Cells Authors: Ziying Yang,
Minhong Huang,
Xiuxiu Wei,
Jun Sun,
Fuping Zhang Tags: CLINICAL REPORT Source Type: research
Genetic analysis and outcomes of Omani children with steroid ‐resistant nephrotic syndrome
ConclusionNPHS2 andNPHS1 genetic variants were the most common inherited causes of SRNS in Omani children. However, patients with variants in several other SRNS causative genes were also identified. We recommend screening for all genes responsible for SRNS in all children who present with this phenotype, which will assist in clinical management decisions and genetic counseling for the affected families. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 20, 2023 Category: Genetics & Stem Cells Authors: Mohamed S. Al Riyami,
Intisar Al Alawi,
Badria Al Gaithi,
Anisa Al Maskari,
Naifain Al Kalbani,
Nadia Al Hashmi,
Aisha Al Balushi,
Maryam Al Shahi,
Suliman Al Saidi,
Muna Al Bimani,
Fahad Al Hatali,
Holly Mabillard,
John A. Sayer Tags: ORIGINAL ARTICLE Source Type: research
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review
ConclusionsThe case reported herein adds to the mutations identified in ALG1-CDG and a review of this literature expands the study of the phenotypic and genotypic spectrum of this disorder. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 19, 2023 Category: Genetics & Stem Cells Authors: Yan Xue,
Yiran Zhao,
Bo Wu,
Jianbo Shu,
Dandan Yan,
Dong Li,
Xiaoli Yu,
Chunquan Cai Tags: CLINICAL REPORT Source Type: research
A common variant SNP rs1937810 in the MPP7 gene contributes to the susceptibility of breast cancer in the Chinese Han population
ConclusionsOur results linked SNP rs1937810 to the susceptibility of BC and the clinical features of BC patients. This SNP is also proved to be significantly related to the serum level of protein MPP7 in both BC patients and controls. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 17, 2023 Category: Genetics & Stem Cells Authors: Rong Li,
Wenpei Zhang,
Bohui Shi,
Li Ma,
Fanliu Jiang,
Xiaochen Wang,
Jieqiong Li Tags: ORIGINAL ARTICLE Source Type: research
No association between MTHFR gene C677T/A1298C polymorphisms, serum folate, vitamin B12, homocysteine levels, and prostate cancer in an Algerian population
ConclusionOur study suggests thatMTHFR C677T and A1298C, as well as serum levels of folate, total homocysteine, and vitamin B12, are not associated with prostate cancer risk in the Algerian population. However, age and family history are significant risk factors. Further studies with a larger sample size are required to confirm these findings. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 15, 2023 Category: Genetics & Stem Cells Authors: Rima Mouhoub ‐Terrab,
Abdel Aziz Chibane,
Malika Khelil Tags: ORIGINAL ARTICLE Source Type: research
Cover
The cover image is based on the Original Article The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies by Anna Grether et al.,https://doi.org/10.1002/mgg3.2148 (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 12, 2023 Category: Genetics & Stem Cells Authors: Anna Grether,
Ivan Ivanovski,
Martina Russo,
Ana ïs Begemann,
Katharina Steindl,
Lucia Abela,
Michael Papik,
Markus Zweier,
Beatrice Oneda,
Pascal Joset,
Anita Rauch Tags: FEATURED COVER Source Type: research
