Molecular Genetics & Genomic Medicine 
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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.A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature
ConclusionIn this study, we described a novel heterozygous mutation (c.146dupA. p.S50Vfs*22) of genePTHLH in a Chinese family. The mutation could induce a premature stop codon leading to a truncation of the protein. Our study broadened the mutation spectrum ofPTHLH in BDE. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 6, 2024 Category: Genetics & Stem Cells Authors: Jian Sun,
Nian Yang,
Zhengquan Xu,
Hongbo Cheng,
Xiangxin Zhang Tags: ORIGINAL ARTICLE Source Type: research
The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants
ConclusionThis patient is the first Chinese case of intellectual developmental disorder (IDD), autosomal recessive 57 (OMIM:617188) with two unreportedMBOAT7 variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 6, 2024 Category: Genetics & Stem Cells Authors: Huimin Li,
Zhan Qi,
Limin Xie,
Chanjuan Hao,
Wei Li Tags: ORIGINAL ARTICLE Source Type: research
Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 1, 2024 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
ConclusionsIn this study, we demonstrate the utility of genome sequencing for the identification of complex chromosomal rearrangement. Because the breakpoints are located within the deep intronic/intergenic region, this copy-neutral variant was missed by theTSC1 andTSC2 single-gene tests and contributed to an unknown etiology. Together, this finding suggests that complex structural variants may be underestimated causes for the etiology of TSC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 25, 2024 Category: Genetics & Stem Cells Authors: Seung Woo Ryu,
Ji ‐Hee Yoon,
Dong‐wook Kim,
Beomman Han,
Heonjong Han,
Joohyun Han,
Hane Lee,
Go Hun Seo,
Beom Hee Lee Tags: CLINICAL REPORT Source Type: research
Clinically significant findings in a decade ‐long retrospective study of prenatal chromosomal microarray testing
ConclusionOur CMA study supports the clinical utility of prenatal CMA for clinical management and identifying genetic etiology in POC arrays. In addition, it provides insight to the spectrum of prenatal and POC CMA results as detected in an academic hospital clinical laboratory setting that serves as a reference laboratory. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 24, 2024 Category: Genetics & Stem Cells Authors: Joie O. Olayiwola,
Mohammad Marhabaie,
Daniel Koboldt,
Theodora Matthews,
Amy Siemon,
Danielle Mouhlas,
Taylor Porter,
George Kyle,
Cortlandt Myers,
Hui Mei,
Ying ‐Chen Claire Hou,
Melanie Babcock,
Jesse Hunter,
Kathleen M. Schieffer,
Yass Tags: ORIGINAL ARTICLE Source Type: research
Third ‐generation sequencing identified two rare α‐chain variants leading to hemoglobin variants in Chinese population
ConclusionIn this study, for the first time, we present two rare Hb variants of Hb Jilin and Hb Beijing in Fujian Province, Southeast China, using TGS technology. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 22, 2024 Category: Genetics & Stem Cells Authors: Jianlong Zhuang,
Yuying Jiang,
Yu'e Chen,
Aiping Mao,
Junwei Chen,
Chunnuan Chen Tags: ORIGINAL ARTICLE Source Type: research
Lessons from two series by physicians and caregivers' self ‐reported data in DDX3X‐related disorders
We report two series of individuals with DDX3X variations from physicians and caregivers. Caregivers considered that the symptom attention-deficit/hyperactivity disorder were the most worrisome. Each of the two datasets provides complementary knowledge. AbstractIntroduction and MethodsWe report two series of individuals withDDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers.ResultsThese two series include several symptoms in common, with fairly similar distribution, which suggests that caregivers' data are close to physicians' data. For example, both series identified early chil...
Source: Molecular Genetics & Genomic Medicine - January 22, 2024 Category: Genetics & Stem Cells Authors: Valentin Ruault,
Pauline Burger,
Johanna Gradels ‐Hauguel,
Nathalie Ruiz,
Xtraordinaire,
Rami Abou Jamra,
Alexandra Afenjar,
Yves Alembik,
Jean‐Luc Alessandri,
Stéphanie Arpin,
Giulia Barcia,
Šárka Bendová,
Ange‐Line Bruel,
Perrine Tags: ORIGINAL ARTICLE Source Type: research
A new phenotype of EVEN ‐PLUS syndrome in a Chinese family and literature review
ConclusionsHSPA9 gene mutations should be suspected in all cases with specific craniofacial features, abnormal skeletal presentations, congenital heart defects, and renal alterations. Seizures and basal ganglia lesions are a new phenotype of EVEN-PLUS syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 20, 2024 Category: Genetics & Stem Cells Authors: Ming Liu,
Huanhuan Li,
Shuhong Ren,
Changhong Ding Tags: ORIGINAL ARTICLE Source Type: research
Genotype –phenotype correlations in carriers of the PMS2 founder variant c.1831dup
ConclusionOur results suggest that thePMS2 c.1831dup PV represents a, probably ancient, founder mutation and is possibly associated with an earlier CRC diagnosis compared to otherPMS2 PVs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 19, 2024 Category: Genetics & Stem Cells Authors: Melanie Gass,
Britta Seebauer,
Aline Thommen,
Alexandra Fischler,
Karl Heinimann Tags: ORIGINAL ARTICLE Source Type: research
Reasons for failure of noninvasive prenatal test for cell ‐free fetal DNA in maternal peripheral blood
ConclusionsThe main reason for NIPT failure was the low ratio of cffDNA. Postponing the gestational weeks of blood collection may improve the success rate. Resampling and retesting upon informed consent in pregnant women who failed the first test could improve the success rate. For pregnant women who finally failed NIPT, it is suggested strengthening the genetic counseling, prenatal examination, and ultrasound evaluation, and carry out interventional prenatal diagnosis if necessary. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 19, 2024 Category: Genetics & Stem Cells Authors: Xiangsha Kong,
Lin Zhang,
Ruifeng Yang,
Haiying Zhang,
Meihong Ren,
Xiang Wang,
Ling Zhu,
Hongsong Chen,
Huiying Rao Tags: ORIGINAL ARTICLE Source Type: research
Clinical value of positive CNVs results by NIPT without fetal ultrasonography ‐identified structural anomalies
ConclusionsEven in pregnancies without ultrasonography-identified anomalies, a positive NIPT screen for CNVs must be interpreted with caution and validated by additional diagnostic study. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 18, 2024 Category: Genetics & Stem Cells Authors: Changhong Wang,
Li Mei,
Yang Wan,
Hong Li,
Shanshan Luan,
Jali Lu,
Pei Wang,
Liu Wen,
Xue Han,
Xiaona Li,
Ningzhi Zhang Tags: CLINICAL REPORT Source Type: research
Newly discovered variants in unexplained neonatal encephalopathy
ConclusionOur study expands the mutation spectrum of genes associated with NE and introduces new evidence for molecular diagnosis in this newborn illness. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 18, 2024 Category: Genetics & Stem Cells Authors: Rong Zhang,
Jingjing Xie,
Xiao Yuan,
Yan Yu,
Yan Zhuang,
Fan Zhang,
Jianfei Hou,
Yanqin Liu,
Weiqing Huang,
Min Zhang,
Junshuai Li,
Qiang Gong,
Xiaoming Peng Tags: ORIGINAL ARTICLE Source Type: research
Genetic and functional variants of the TBX20 gene promoter in dilated cardiomyopathy
ConclusionsThese data indicate that the DSV (g.4275G>T) and three SNPs [g.4949C>T (rs1191745927), g.5114G>A (rs112076877) and g.5252C>T (rs1356932911)] increase transcription activity ofTBX20 gene promoter in both HEK-293 and neonatal rat cardiomyocytes (NRCMs) cell lines by affecting the binding of transcription factors. But the mechanism remains to be verified in vivo. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 18, 2024 Category: Genetics & Stem Cells Authors: Xue Gao,
Shuchao Pang,
Liangcai Ding,
Han Yan,
Yinghua Cui,
Bo Yan Tags: ORIGINAL ARTICLE Source Type: research
Identification and interruption of inheritance of familial cryptic translocations: A case report
ConclusionWhole-genome, low-coverage mate-pair sequencing combined with preimplantation genetic haplotyping methods powerfully and practically identify cryptic translocations and block familial transmissions. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 18, 2024 Category: Genetics & Stem Cells Authors: Jian Ou,
Jian Sun,
Chuan ‐Chun Yang,
Meng‐Xia Ni,
Qin‐Yan Zou,
Shi‐Yu Xing,
Chun‐Hua Lin,
Qing‐Xia Meng,
Jie Ding,
Ai‐Yan Zheng,
Yan Zhang,
Ling‐Yin Kong,
Bo Liang,
Hong Li Tags: CLINICAL REPORT Source Type: research
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates
ConclusionWe successfully designed a NeoEXOME panel for targeted sequencing of monogenic inherited diseases in NBS. The panel demonstrated high performance in the Chinese population, particularly for the early detection of diseases with no biochemical markers. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 18, 2024 Category: Genetics & Stem Cells Authors: Ziyang Cao,
Xiaoyan He,
Dongjuan Wang,
Maosheng Gu,
Feng Suo,
Rong Qiang,
Ruixue Zhang,
Chengrong Song,
Xiaohua Wang,
Bo Zhu,
Donghua Cao,
Haihua Yu,
Yiping Qu,
Guosong Shen,
Jian Wu,
Pengpeng Wang,
Jinxia Wang,
Hongyang Zhang,
Zijun Yan Tags: ORIGINAL ARTICLE Source Type: research
