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.

Major depressive disorder and the risk of irritable bowel syndrome: A Mendelian randomization study
ConclusionOur findings supported a causal relationship between MDD and IBS, which may have implications for the clinical management of IBS in individuals with MDD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2024 Category: Genetics & Stem Cells Authors: Ruiming Zhu, Nan Zhang, He Zhu, Fudong Li, Hong Xu Tags: ORIGINAL ARTICLE Source Type: research

Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants
ConclusionsCompound-heterozygousTTC21B variants underlie the phenotype in this patient. Thus, Cys518Arg may be a hotspot variant in the Chinese population. Genetic testing should be recommended for NPHP in neonates and early infants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2024 Category: Genetics & Stem Cells Authors: Yingying Li, Liying Dai, Hong Xu, Jin Huang, Jinqiu Zhang, Zhenzhu Mei, Rui Zhang Tags: ORIGINAL ARTICLE Source Type: research

Identification of a novel TSC1 gene variant in a patient with atypical vitiligo ‐like skin lesions: Unveiling the hidden tuberous sclerosis complex
ConclusionThe detection of this novel pathogenicTSC1 variant in the patient with atypical vitiligo-like skin lesions enrolled in our study ultimately resulted in the diagnosis of TSC. As a result, our study contributes to expanding the mutational spectrum of theTSC1 gene and refining the genotype –phenotype map of TSC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2024 Category: Genetics & Stem Cells Authors: Linli Liu, Yanbo Wang, Zhengzhong Zhang, Chunshui Yu, Jin Chen Tags: CLINICAL REPORT Source Type: research

A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE ‐1 insertion in LDLR
We report an Egyptian family with familial hypercholesterolemia. Both the proband and parents have the disorder while a sibling is unaffected. Exome sequencing was performed to identify the causal variant.ResultsLINE-1 insertion in exon 7 ofLDLR was identified. Both parents have a heterozygous variant while the proband has a homozygous variant. The unaffected sibling did not carry the variant.DiscussionThis insertion may contribute to the high prevalence of hypercholesterolemia in Egypt and the finding underscores the importance of implementing mobile element insertion caller in routine bioinformatics pipeline. (Source: Mo...
Source: Molecular Genetics & Genomic Medicine - March 4, 2024 Category: Genetics & Stem Cells Authors: Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee Tags: CLINICAL REPORT Source Type: research

Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency
ConclusionThe craniofacial dysmorphism caused by the deficiency ofFoxi3 may be related to the expression ofAkt2 and PI3K-Akt signaling pathway. This study laid a foundation for understanding the function ofFOXI3 and the pathogenesis and treatment of related craniofacial dysmorphism caused byFOXI3 dysfunction. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2024 Category: Genetics & Stem Cells Authors: Xiao ‐Liang Xing, Ziqiang Zeng, Yana Wang, Bo Pan, Xueshuang Huang Tags: ORIGINAL ARTICLE Source Type: research

Genetic diagnosis of Alport syndrome in 16 Chinese families
ConclusionOur findings expand the spectrum of AS gene variation, which will inform genetic diagnosis and add to the theoretical basis for the prevention of AS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2024 Category: Genetics & Stem Cells Authors: Tangli Xiao, Jun Zhang, Li Liu, Bo Zhang Tags: ORIGINAL ARTICLE Source Type: research

Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 2, 2024 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II
ConclusionA novel frameshift mutation inSOX10 gene was identified in this study, which may be the cause of WS2 in proband. In addition,FGFR3,SOX2, andPAX3 might also participate in promoting the progression of WS2. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 29, 2024 Category: Genetics & Stem Cells Authors: Xiuli Ma, Liping Zhao, Li Li, Xia Li, Chaohong Ding, Jing Ma Tags: ORIGINAL ARTICLE Source Type: research

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, caf é‐au‐lait spots, and metabolic abnormality
ConclusionThis study expands the genotypic and phenotypic spectrum of TNRC6B deficiency syndrome. Our findings indicate that patients with TNRC6B deficiency syndrome should be monitored for growth and metabolic problems and therapeutic strategies should be developed to address these problems. Our report also suggests the clinical diversity of TNRC6B deficiency syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2024 Category: Genetics & Stem Cells Authors: Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo Tags: ORIGINAL ARTICLE Source Type: research

A novel gain ‐of‐function STAT3 variant in infantile‐onset diabetes associated with multiorgan autoimmunity
ConclusionIn the current study, we describe clinical manifestations and identify a novelSTAT3 GOF variant (c.1069G>A) in a Chinese patient. This activating variant impairs insulin expression by increasing transcriptional inhibition of its downstream transcription factorISL1, which could be involved in the pathogenesis of early-onset diabetes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 26, 2024 Category: Genetics & Stem Cells Authors: Qiaoli Zhou, Dandan Chen, Jing Yu, Bixia Zheng, Wei Zhou, Zhanjun Jia, Aihua Zhang, Wei Gu Tags: ORIGINAL ARTICLE Source Type: research

Novel hemizygous single ‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss
ConclusionsContinued genetics evaluation can help to end diagnostic odysseys of patients. Careful consideration of genes represented when utilizing gene panels is crucial to ensure an accurate diagnosis. Medically underserved populations are less likely to receive comprehensive genetic testing in their diagnostic workup. Our report is an example of the medical impact of genomic medicine implementation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 26, 2024 Category: Genetics & Stem Cells Authors: Ryan J. German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A. Lewis, Lisa Saba, The Texome Project, Michael F. Wangler, Sandesh Nagamani Tags: CLINICAL REPORT Source Type: research

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay
ConclusionOur study revealed that two missense variants positioned the first nucleotides of the 5 ′ end ofCOL4A5 exons and one internal exonic nonsense variant caused aberrant splicing. Importantly, this study emphasized the necessity of assessing the effects of SNVs at the mRNA level. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 24, 2024 Category: Genetics & Stem Cells Authors: Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao Tags: ORIGINAL ARTICLE Source Type: research

A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage
ConclusionWhile both genes may contribute to the phenotype, the Meiosis I abnormalities in the conceptions favor the causal role ofHORMAD2 in the etiology of RM in this couple. This report illustrates the importance of comprehensively analyzing the products of conception to guide the search for the genetic causation of RM. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 24, 2024 Category: Genetics & Stem Cells Authors: Manqi Liang, Beena Suresh, Eric Bareke, Sanaa Choufani, Sujatha Jagadeesh, Rosanna Weksberg, Jacek Majewski, Rima Slim Tags: ORIGINAL ARTICLE Source Type: research

Type 1 early infantile epileptic encephalopathy: A case report and literature review
ConclusionThe patient with EIEE1 had physical symptoms and hypsarrhythmia on electroencephalogram. Genetic testing identified a causative mutation in theARX gene, emphasizing the role of genetic testing in EIEE diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 24, 2024 Category: Genetics & Stem Cells Authors: Erfan Zaker, Negar Nouri, Mojtaba Movahedinia, Ali Dadbinpour, Mohammad Yahya Vahidi  Mehrjardi Tags: CLINICAL REPORT Source Type: research

Hope, but never expect? Comparing parents' pre ‐ and post‐disclosure attitudes toward return of results from diagnostic exome sequencing for their child
ConclusionResults from this study are relevant for counseling and policy development. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 17, 2024 Category: Genetics & Stem Cells Authors: Candice Cornelis, Aad Tibben, Eva Brilstra, Ineke Bolt, Marieke van Summeren, Nine Knoers, Annelien L. Bredenoord Tags: ORIGINAL ARTICLE Source Type: research