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Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature review
ConclusionsBeyond gonadectomy, adopting a multifaceted approach the Y chromosome material detection, prompt initiation of puberty, tailored oestrogen therapy, and coordinated multidisciplinary management significantly contributes to the comprehensive health oversight of TS patients with Y chromosome material. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 12, 2023 Category: Genetics & Stem Cells Authors: Wei Shen, Ya Li Tags: REVIEW ARTICLE Source Type: research

Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran
ConclusionIn this light, appropriate patient management may follow. The clinical effect of reported variants is essential for genetic counseling and prenatal diagnosis in the patients' families and significant for the improvement of precision medicine. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 11, 2023 Category: Genetics & Stem Cells Authors: Seyed Reza Kazemi Nezhad, Pegah Namdar Aligoodarzi, Golale Rostami, Gholamreza Shariati, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat, Mohammad Hamid Tags: ORIGINAL ARTICLE Source Type: research

Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype –phenotype spectrum
ConclusionEarly diagnosis and prompt treatment in infancy are crucial for managing HT III effectively. Dietary therapy, particularly during childhood, plays a significant role in disease management. The findings from this study enhance our understanding of the genotype –phenotype associations in HT III and emphasize the importance of early intervention for improved patient outcomes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 11, 2023 Category: Genetics & Stem Cells Authors: Dong Han, Lihong Wang, Chen Zhao, Juan Li, Chenggang Huang, Wenxia Song, Haiwei Wang, Xiaoze Li, Yilun Tao Tags: ORIGINAL ARTICLE Source Type: research

Early ‐onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family
ConclusionOur report brings to attention the onset of DM during childhood or early adulthood in patients with Werner's syndrome who typically develop type 2 DM around the age of 30 –40 years. Presence of consanguinity among parents, dysmorphic features, and malignancy should prompt consideration of diagnosis of Werner's syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 10, 2023 Category: Genetics & Stem Cells Authors: Fieke W. Hoff, Chao Xing, Vinaya Simha, Anil K. Agarwal, Xunzhi Zhang, Leena Lekkala, Madhumati S. Vaishnav, Frank Vuitch, Abhimanyu Garg Tags: ORIGINAL ARTICLE Source Type: research

Association of KDR (rs2071559, rs1870377), CFH (rs1061170, rs1410996) genes variants and serum levels with pituitary adenoma
ConclusionKDR rs2071559, rs1870377, andCFH rs1061170 could be potential biomarkers associated with PA. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 7, 2023 Category: Genetics & Stem Cells Authors: Akvile Bruzaite, Greta Gedvilaite, Loresa Kriauciuniene, Rasa Liutkeviciene Tags: ORIGINAL ARTICLE Source Type: research

“Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene”
ConclusionsIn infants presenting with unexplained non-specific neurological symptoms, irrespective of classical signs of vitamin B12 deficiency, evaluation forTCN2 defect should be considered. Early diagnosis and appropriate management can lead to favorable outcomes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 6, 2023 Category: Genetics & Stem Cells Authors: Mohammed Ahmed Mohammed Oshi, Jaber Alfaifi, Youssef Ali M. Alqahtani, Mohammed Fahad Aljabri, Naglaa M. Kamal, Jwaher Althopaity, Khalid A. Althobaiti, Abdullah M. Almalki, Salma A. S. Abosabie, Sara A. Abosabie, Hanan Sakr Sherbiny, Saif K. A Tags: ORIGINAL ARTICLE Source Type: research

Gender ‐dependent multiple cross‐phenotype association of interferon lambda genetic variants with peripheral blood profiles in healthy individuals
ConclusionsThese results show that lambda interferons can have pleiotropic effects. However, gender seems to be an effect modifier, with males being more sensitive than females to the effect. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 6, 2023 Category: Genetics & Stem Cells Authors: Debarati Guha Roy, Lucky Singh, Himanshu K. Chaturvedi, Sreedhar Chinnaswamy Tags: ORIGINAL ARTICLE Source Type: research

Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome
ConclusionC3 p.W1034R results in an inherited form of aHUS that often presents with recurrent episodes, possibly because of impaired interactions between the C3d and C-terminal domains of factor H. Following comprehensive genomic analysis, functional validation of C3 p.W1034R strengthens the molecular basis for aHUS pathophysiology. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 5, 2023 Category: Genetics & Stem Cells Authors: Masafumi Tsuchida, Shin Goto, Hirofumi Watanabe, Sawako Goto, Hiroki Yamaguchi, Ichiei Narita Tags: CLINICAL REPORT Source Type: research

Recurrent human 16p11.2 microdeletions in type I Mayer –Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population
ConclusionsThe results of the study identify 16p11.2 deletion in Chinese MRKH I patients for the first time, as well as support the contention that 16p11.2 microdeletions are associated with MRKH syndrome in both types across populations. It is suggested that 16p11.2 microdeletions should be included in molecular diagnosis and genetic counseling of female reproductive tract disorders. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 4, 2023 Category: Genetics & Stem Cells Authors: Kaizhen Su, Han Liu, Xiaoqun Ye, Hangmei Jin, Zhenwei Xie, Chunbo Yang, Daizhan Zhou, Hefeng Huang, Yanting Wu Tags: ORIGINAL ARTICLE Source Type: research

RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome
ConclusionThe findings of this study underscore the importance of family history investigation and genetic testing in diagnosing syndromic LVH. By identifying the underlying genetic cause, clinicians can better understand the etiology of RAS-HCM and its association with SCD in young adults. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 3, 2023 Category: Genetics & Stem Cells Authors: Jingjing Zheng, Longyun Peng, Ruofei Cheng, Zhiyan Li, Jianjie Xie, Erwen Huang, Jianding Cheng, Qianhao Zhao Tags: ORIGINAL ARTICLE Source Type: research

A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review
ConclusionWe reported a novel heterozygous deletion variant of theABCB4 gene in a Chinese family, as well as a literature review ofABCB4-related disorders. We aim to facilitate healthcare professionals to better understand genetic factors as an uncommon cause of hepatobiliary diseases, as well as improve therapeutic strategies in challenging clinical situations such as pregnancy and neonatal care. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 3, 2023 Category: Genetics & Stem Cells Authors: Yang Zheng, Qunfang Rao, Yiru Han, Jianqin He Tags: CLINICAL REPORT Source Type: research

Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta ‐analysis
ConclusionThis is the first meta-analysis that provides evidence that the rs2609255 ofFAM13A might increase susceptibility to RA-ILD, and IPF especially in Asian but not in European individuals, and not be correlated with silicosis in Chinese individuals, which indicated the differences in susceptibility to disease by race were noteworthy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 3, 2023 Category: Genetics & Stem Cells Authors: Yinan Hu, Zhen Li, Yanhong Ren, Huaping Dai Tags: REVIEW ARTICLE Source Type: research

Prenatal whole ‐exome sequencing in fetuses with increased nuchal translucency
ConclusionThis study provides powerful evidence to offer prenatal WES for increased NT only when additional abnormalities are present. Early detailed ultrasound to detect emerging anomalies can help physicians offer prenatal WES to fetuses with a greater likelihood of diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 28, 2023 Category: Genetics & Stem Cells Authors: Chunge Cao, Fang Liu, Yan Yang, Qing Zhang, Junfang Huang, Xinhong Liu Tags: ORIGINAL ARTICLE Source Type: research

Clinical application of targeted long read sequencing in prenatal beta ‐thalassemia testing and genetic counseling
ConclusionThis finding provided clarity and enabled family planning for the proband and her family. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 23, 2023 Category: Genetics & Stem Cells Authors: Hui ‐Lin Chin, Miles C. Benton, Lin Yang, Kok Siong Poon, Karen M. L. Tan, Saumya S. Jamuar, Roger Foo, Hai Yang Law, Denise Li‐Meng Goh, Samuel S. Chong, Paola Florez Sessions Tags: CLINICAL REPORT Source Type: research

Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD
ConclusionsWe describe two hemizygous missense variants of X-linkedCFAP47 in two unrelated PCD individuals and proveCFAP47 variants are related to a reduced number of epithelial ciliary cells. Therefore, we suggest thatCFAP47 should be known as a novel pathogenic gene of human PCD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 19, 2023 Category: Genetics & Stem Cells Authors: Haijun Ge, Wangji Zhou, Miao He, Haixia Zheng, Xinyue Zhao, Ting Zhang, Ying Zhang, Chi Shao, Chongsheng Cheng, Yaping Liu, Xinlun Tian, Kai ‐Feng Xu, Xue Zhang Tags: ORIGINAL ARTICLE Source Type: research