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Height of non ‐Hispanic white adults with homeostatic iron regulator HFE genotypes p.C282Y/p.C282Y and wt/wt
ConclusionsThe height of men withHFE p.C282Y/p.C282Y and wt/wt does not differ significantly. The height of female participants was greater in those with p.C282Y/p.C282Y than wt/wt. We found no independent association ofHFE genotype with the height of men or women. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 7, 2023 Category: Genetics & Stem Cells Authors: James C. Barton, J. Clayborn Barton, Ronald T. Acton Tags: ORIGINAL ARTICLE Source Type: research

Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report
ConclusionsOur study indicating that a fetus carrying a novel nonsense variant ofLMX1B (c.844C>T, p.Gln282*) can exhibit isolated talipes equinovarus, which expands theLMX1B genotypic spectrum and is advantageous for genetic counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 6, 2023 Category: Genetics & Stem Cells Authors: Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu Tags: CLINICAL REPORT Source Type: research

Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D ‐related Kabuki syndrome
ConclusionsHearing characteristics of three individuals with three novel pathogenic variants ofKMT2D range from mild to profound fluctuating hearing loss with mild to moderate SNHL. HRCT scans showed that all three individuals had anatomical middle and inner ear abnormalities. KS 1 patients must get clinical therapy for OME, frequent auditory monitoring, and prompt intervention. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 4, 2023 Category: Genetics & Stem Cells Authors: Zhoushu Zheng, Lu Ding, Meihong Wang, Yinghui Zhang, Yihui Yang, Ming Tang, Jun Xu, Liangjiong Wang, Junhua Wu, Haibo Li Tags: ORIGINAL ARTICLE Source Type: research

Novel PNKP mutations associated with reduced DNA single ‐strand break repair and severe microcephaly, seizures, and developmental delay
ConclusionThe data presented show that the detected compound heterozygous variants result in reduced levels of PNKP protein, which affect the repair of both oxidative and TOP1-induced single-strand breaks, and most likely causes MCSZ in this patient. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 3, 2023 Category: Genetics & Stem Cells Authors: Ann ‐Charlotte Thuresson, Jan Brazina, Talia Akram, Julia Albrecht, Niklas Dahl, Cecilia Soussi Zander, Keith W. Caldecott Tags: ORIGINAL ARTICLE Source Type: research

Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review
ConclusionsThis patient had multiple episodes of convulsions or syncope after emotional stimulation or activity, with intermittent prolongation of the QTc on routine ECG, marked prolongation of the QTc after exercise, and T-wave alternans, which differed from the LQT14 phenotype caused by the previous CALM1 mutation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 1, 2023 Category: Genetics & Stem Cells Authors: Qiqing Sun, Zhenhua Xie, Fangjie Wang, Jun Guo, Xiaochen Yan Tags: CLINICAL REPORT Source Type: research

A further case of AFG2B ‐related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T > C, p.(Leu438Pro)
ConclusionOf note, the change c.1313T>C, p.(Leu438Pro) has been observed in a previously published patient as part of a complex disease allele along with a second homozygous missense change, so the exact contribution of the two alterations to this patient's disease had initially remained unclear. Our results support the pathogenic relevance of the c.1313T>C, p.(Leu438Pro) allele while providing detailed insights into the disease manifestation of a further patient. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 31, 2023 Category: Genetics & Stem Cells Authors: Sarah Grosch, Martin Kehrer, Olaf Riess, Andrea Bevot, Tobias B. Haack Tags: CLINICAL REPORT Source Type: research

Optical genome mapping reveals balanced and unbalanced genetic changes associated with tumor ‐forming potential in an early‐stage prostate cancer epithelial subline (M2205)
ConclusionThese results support using OGM as a tool to analyze solid tumors in clinical/research settings. Moreover, this OGM analysis expanded the characterization of cytogenetic changes present in the M2205 subline, including alterations associated with tumors from Black males diagnosed with prostate cancer. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 30, 2023 Category: Genetics & Stem Cells Authors: Prabakaran Paulraj, Elizabeth Barrie, Colleen Jackson ‐Cook Tags: ORIGINAL ARTICLE Source Type: research

Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism
ConclusionThis study has identified two novel compound variants in theOCA2 gene and a previously reported variant in a Chinese family with OCA. By expanding the mutation spectrum of theOCA2 gene, our findings contribute to a better understanding of the genetic basis of OCA. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 27, 2023 Category: Genetics & Stem Cells Authors: Beilei Jiang, Hua Zhang, Yuling Kan, Xueping Gao, Zhaoli Du, Quan Liu Tags: ORIGINAL ARTICLE Source Type: research

COPA syndrome caused by a novel p.Arg227Cys COPA gene variant
ConclusionThe present identification and characterization of a novel mutation expands the genotypic spectra of the COPA syndrome and provide reference data to guide future clinical diagnosis and treatment of COPA syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 26, 2023 Category: Genetics & Stem Cells Authors: Yue Zheng, Yue Du, Yubin Wu, Fuwei Li, Weiyue Gu, Chengguang Zhao Tags: ORIGINAL ARTICLE Source Type: research

A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems
ConclusionThe findings of this study expand the existing knowledge of variants of theCHD2 gene and provide a detailed phenotype associated with this gene. These data could have implications for genetic diagnosis and counselling in similar conditions. Moreover, this information could be useful for therapeutic purposes, including the proper administration of medication to control epilepsy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 25, 2023 Category: Genetics & Stem Cells Authors: Atefeh Mir, Yongjun Song, Hane Lee, Zakiye Nadeali, Mohammad Amin Tabatabaiefar Tags: ORIGINAL ARTICLE Source Type: research

Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7
ConclusionThis study expanded the mutation spectrum ofCUL7, detected the aberrant splicing event ofCUL7 via RT-PCR, constructed the haplotype for PGT-M, and demonstrated the successful delivery of a healthy baby using PGT-M. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 25, 2023 Category: Genetics & Stem Cells Authors: Xueqian Wang, Yaqiong He, Xiaorong Wang, Xiangtian Kong, Yunying Lin, Yejie Yao, Yi Huang Tags: ORIGINAL ARTICLE Source Type: research

A novel pathogenic variant located just upstream of the C ‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome
ConclusionsOur results revealed the presence of TGF- β paradox in this case with the novel loss-of-functionSMAD3 variant. The precise mechanism underlying the paradox is unknown, but further research is warranted to clarify the influence of theSMAD3 variant type and location on the LDS3 phenotype as well as the molecular mechanism leading to LDS3 aortopathy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 21, 2023 Category: Genetics & Stem Cells Authors: Satoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Ryo Inuzuka, Yuki Taniguchi, Masaru Hatano, Issei Komuro Tags: CLINICAL REPORT Source Type: research

Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance
ConclusionsWe identified a novel heterozygous mutation in thePTH1R gene leading to clinical manifestations with incomplete penetrance that expands the spectrum of knownPTH1R mutations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 16, 2023 Category: Genetics & Stem Cells Authors: Jie Wang, Chaoyue Zhao, Xin Zhang, Li Yang, Yanyan Hu Tags: ORIGINAL ARTICLE Source Type: research

Comprehensive application of multiple molecular diagnostic techniques in pre ‐implantation genetic testing for monogenic
ConclusionIn conclusion, this study found that SNP analysis is advantageous for identifying polygenic and deletional mutations, whereas NGS is more cost-efficient for detecting common monogenic diseases. Additionally, SNP-based haplotyping and PCR-based direct detection of mutations can be used together to enhance the accuracy and success rates of PGT-M. Our findings offer valuable insights for PGT technicians in choosing suitable detection methods for patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 13, 2023 Category: Genetics & Stem Cells Authors: Peng Huang, Yueyun Lan, Hong Zhou, Luye Lin, Jinhui Shu, Caizhu Wang, Xin Zhao, Lifang Liang, Sheng He, Jingfei Mou, Xiaofei Zhang, Qingming Qiu, Hongwei Wei Tags: ORIGINAL ARTICLE Source Type: research

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