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Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent ‐reported measures
ConclusionThe study highlights the importance of understanding the impact of the demographic variability of children with DS and their parents on the QoL of their children. It emphasizes the need to address the needs of families with lower incomes and the importance of parental education and relationships with their children in improving social well-being. The findings could aid policymakers and healthcare providers in improving the QoL for families with children who have DS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 14, 2023 Category: Genetics & Stem Cells Authors: Nuha Alrayes, Noha M. Issa, Omar Y. Alghubayshi, Jumana Y. Al ‐Amaa, Ashwaq Hassan Alsabban, Dalal Sameer Al Shaer, Reem Abdullah Alyoubi, Khalidah K. Nasser, Yaser M. Alkhiary Tags: ORIGINAL ARTICLE Source Type: research

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike ‐and‐wave activation in sleep
ConclusionThese findings widen the genetic heterogeneity of DEE-SWAS, includingPARS2 as a causative gene in this syndromic entity, and highlight the importance of prolonged sleep EEG recording for the recognition of SWAS as a possible electroclinical evolution ofPARS2-related DEE. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 13, 2023 Category: Genetics & Stem Cells Authors: Laura Licchetta, Lucia Di  Giorgi, Margherita Santucci, Lisa Taruffi, Carlotta Stipa, Raffaella Minardi, Valerio Carelli, Francesca Bisulli Tags: ORIGINAL ARTICLE Source Type: research

Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature
ConclusionHowever, there are no formal clinical guidelines for the management of this disease, and research on treatment and prognosis remains a challenge and focus in future. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 13, 2023 Category: Genetics & Stem Cells Authors: Jiayi Li, Chuan Zhang, Xinyuan Tian, Bingbo Zhou, Xue Chen, Yupei Wang, Shengju Hao, Ling Hui, Zhaoyan Meng Tags: CLINICAL REPORT Source Type: research

Prenatal diagnosis of developmental and epileptic encephalopathy 9 with a 10.05 ‐Mb microdeletion at Xq21.31q22.1 inherited from mother: A case report and literature review
ConclusionIn this case study, we have not only identified the epilepsy type of the woman as DEE9 but have also made an unfavorable prognosis for her fetus. Our findings from this prenatal case provide valuable clinical resources for prenatal diagnosis and genetic counseling, while also implying the potential of CNV-seq as a viable method for uncoveringPCDH19-related epilepsy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 12, 2023 Category: Genetics & Stem Cells Authors: Juan Zhu, Zhenzhen Liu, Feng Geng, Jing Peng, Zhimin Li, Qin Yang Tags: CLINICAL REPORT Source Type: research

Autosomal recessive intellectual disability caused by compound heterozygous variants of the EEF1D gene in a Chinese family
ConclusionsOur study expands the variation spectrum and provides compelling evidence forEEF1D as a candidate gene for autosomal recessive intellectual disability. However, due to the deficient number of reported cases, researchers need to further studyEEF1D and supplement the clinical phenotypes and treatment measures. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 12, 2023 Category: Genetics & Stem Cells Authors: Jiamei Zhang, Hongxing Liu, Mingmei Wang, Yiran Xu, Dengna Zhu, Fan Yang Tags: CLINICAL REPORT Source Type: research

Exome sequencing ‐aided precise diagnosis of four families with type I Stickler syndrome
ConclusionThis study broadens theCOL2A1 gene mutation spectrum, provides evidence for ER stress caused by pathogenic COL2A1 mutations and highlights the importance of non-ophthalmological examination in clinical diagnosis of high myopia. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 11, 2023 Category: Genetics & Stem Cells Authors: Runyi Tian, Ping Tong, Yuhong He, Liyu Zang, Shimin Zhou, Qi Tian Tags: ORIGINAL ARTICLE Source Type: research

First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non ‐consanguineous Chinese family
ConclusionThis is the first report of aTXNDC15 variant in the Chinese population and the first PGT case ofTXNDC15-related MKS worldwide. The successful application of PGT-M in this family provides a potential approach for other monogenic diseases. Our case expands the variant spectrum ofTXNDC15 and contributes to the molecular diagnosis and genetic counseling for MKS. This case underscores the importance of appropriate genetic testing methods and accurate genetic counseling in the diagnosis of rare monogenic diseases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 11, 2023 Category: Genetics & Stem Cells Authors: Huiling Xu, Jiajie Pu, Ningjie Yang, Zhengzhong Wu, Chanlin Han, Jilong Yao, Xuemei Li Tags: CLINICAL REPORT Source Type: research

Characterization of novel MSX1 variants causally associated with non ‐syndromic oligodontia in Chinese families
ConclusionThree novelMSX1 variants were identified in Chinese Han families with NSO, expanding theMSX1 variant spectrum and presenting a genetic origin for the pathogenesis detected in patients and their families. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 9, 2023 Category: Genetics & Stem Cells Authors: Ya Zhao, Jiabao Ren, Lingqiang Meng, Yan Hou, Chunyan Liu, Guozhong Zhang, Wenjing Shen Tags: ORIGINAL ARTICLE Source Type: research

Comparison of first ‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study
ConclusionOur findings represent real-practice evidence of how first-tier genome-wide sequencing tests significantly improve the DR for paediatric outpatients with a suspected underlying genetic aetiology, thereby allowing a time-saving setting of the correct management, follow-up and family planning. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 2, 2023 Category: Genetics & Stem Cells Authors: Erica Rosina, Lidia Pezzani, Erika Apuril, Laura Pezzoli, Daniela Marchetti, Matteo Bellini, Camilla Lucca, Camilla Meossi, Marta Massimello, Milena Mariani, Agnese Scatigno, Elisa Cattaneo, Lorenzo Colombo, Silvia Maitz, Anna Cereda, Donat Tags: ORIGINAL ARTICLE Source Type: research

A novel missense variant in OTUD5 causes X ‐linked multiple congenital anomalies‐neurodevelopmental syndrome
We describeOTUD5 gene variation in the Chinese population, with the first report of this variant. Additionally, we provide a comprehensive summary of all published cases of MCAND to date, in order to elucidate the primary clinical features of the syndrome and the variability in phenotype severity. This case expands the genetic and clinical phenotypic spectrum ofOTUD5-associated MCAND. AbstractBackgroundTheOTUD5 gene encodes a deubiquitinating enzyme (DUB) of the OTU family. Variants ofOTUD5 are associated with X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND). The case described in this study expan...
Source: Molecular Genetics & Genomic Medicine - December 1, 2023 Category: Genetics & Stem Cells Authors: Weifang Tian, Haiyu Li, Ying Li, Jing Guo, Handuo Wang, Bo Yang, Pengyun Li, Xueyin Cui, Ling Liu Tags: CLINICAL REPORT Source Type: research

Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow ‐up
ConclusionWe performed the largest-scale neonatal carrier screening for hearing loss genes in Southeast China. Our results indicated that genetic screening is an important complementation to conventional hearing screening. Our practice and experience may facilitate the application and development of neonatal genetic screening policy in mainland China. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 1, 2023 Category: Genetics & Stem Cells Authors: Lin Kun, Huang Jiexiang, Lin Hua, Han Junlin, Ruan Yijun, Zhang Lixian, Chen Mingqiao Tags: ORIGINAL ARTICLE Source Type: research

Genetic analysis and literature review of a Poirier –Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B
ConclusionA rare case of POBINDS caused by a novel frameshift variant inCSNK2B was diagnosed. The novel variant extends the variation spectrum ofCSNK2B, which provides guidance for early clinical diagnosis, genetic counseling and treatment of this family. A review of the currently reported cases of POBINDS further enriches and summarizes the relationship between genotype and phenotype of POBINDS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 1, 2023 Category: Genetics & Stem Cells Authors: Danyang Li, Bingbo Zhou, Xinyuan Tian, Xue Chen, Yupei Wang, Shengju Hao, Chuan Zhang, Ling Hui Tags: CLINICAL REPORT Source Type: research

The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions
ConclusionWe reported a large Chinese cohort consisting of mitochondrial PEO patients with single large-scale mtDNA deletions. Our results demonstrated that the length and locations of mtDNA deletions may influence onset ages and clinical phenotypes. The severity of muscle pathology could not only indicate diagnosis but also may be associated with clinical manifestations beyond the extraocular muscles. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 29, 2023 Category: Genetics & Stem Cells Authors: Yang Zhao, Yue Hou, Xutong Zhao, Tongling Liufu, Meng Yu, Wei Zhang, Zhiying Xie, Victor Wei Zhang, Yun Yuan, Zhaoxia Wang Tags: ORIGINAL ARTICLE Source Type: research

Clinical and ocular abnormalities in DEGCAGS syndrome —Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities
ConclusionsWe describe the 15th child to be presumably identified with the DEGCAGS syndrome and the first individual with homozygous missense variants in the ZNF699 gene who had complete clinical examination and detailed retinal imaging. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 28, 2023 Category: Genetics & Stem Cells Authors: Syed M. Ali, Dua A. AlMasri, Carlos E. Prada, Doris Lin, Thomas M. Bosley, Igor Kozak Tags: CLINICAL REPORT Source Type: research

Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review
ConclusionThis study identified novelIARS1 variants and the phenotype of developmental regression, expanding the spectrum of pathogenic variants and phenotypes ofIARS1-related diseases and providing new evidence for the rare phenotype of epileptic seizures caused byIARS1 variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 28, 2023 Category: Genetics & Stem Cells Authors: Jinsong Jiang, Yu Feng, Qiaoyin Tang, Chenyue Zhao, Min Guo, Jianrui Wu, Rong Guo, Hongyong Lu, Xiayu Sun, Jingbo Gao, Huiqin Xue Tags: ORIGINAL ARTICLE Source Type: research