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Journals Molecular Genetics & Genomic M...

Molecular Genetics & Genomic Medicine

https://read.qxmd.com/read/38867642/retinitis-pigmentosa-with-iris-coloboma-due-to-mir-204-gene-variant-in-a-chinese-family
#1
JOURNAL ARTICLE
Zhang Lei, Zhu He-Lin, Wang Hai-Yan, Jia Wei, Wang Ru, Cui Zhi-Li, Wang Qian-Feng
PURPOSE: To characterize the phenotype and genotype of a Chinese family with autosomal-dominant retinitis pigmentosa (RP) accompanied by iris coloboma. METHODS: The proband, a 34-year-old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full-field electroretinography (ffERG). Genetic analyses were conducted through whole-exome sequencing (WES) to screen for variations. RESULTS: Three members of this Chinese family were shown to be bilateral iris coloboma...
June 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38864382/a-novel-missense-variant-located-within-the-zinc-finger-domain-of-the-gli3-gene-was-identified-in-a-vietnamese-pedigree-with-index-finger-polydactyly
#2
JOURNAL ARTICLE
Thy Ngoc Nguyen, Giang Son Tran, Hai Duc Hoang, Long Giang Nguyen
BACKGROUND: Polydactyly, particularly of the index finger, remains an intriguing anomaly for which no specific gene or locus has been definitively linked to this phenotype. In this study, we conducted an investigation of a three-generation family displaying index finger polydactyly. METHODS: Exome sequencing was conducted on the patient, with a filtration to identify potential causal variation. Validation of the obtained variant was conducted by Sanger sequencing, encompassing all family members...
June 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38860502/noninvasive-prenatal-screening-in-a-pregnant-woman-with-a-history-of-stem-cell-transplant-from-a-male-donor-a-case-report-and-literature-review
#3
REVIEW
Dong Liang, Ying Lin, Chunyu Luo, Hang Li, Ping Hu, Zhengfeng Xu
BACKGROUND: As a screening method, inaccuracies in noninvasive prenatal screening (NIPS) exist, which are often attributable to biological factors. One such factor is the history of transplantation. However, there are still limited reports on such NIPS cases. METHODS: We report an NIPS case of a pregnant woman who had received a stem cell transplant from a male donor. To determine the karyotype in the woman's original cell, we performed chromosome microarray analysis (CMA) on her postnatal blood and oral mucosa...
June 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38860500/mutation-spectrum-of-hearing-loss-patients-in-northwest-china-identification-of-20-novel-variants
#4
EDITORIAL
Panpan Ma, Bingbo Zhou, Qichao Kang, Xue Chen, Xinyuan Tian, Ling Hui, Shengju Hao, Huiyan Wu, Chuan Zhang
BACKGROUND: Hearing loss (HL) is the most frequent sensory deficit in humans, with strong genetic heterogeneity. The genetic diagnosis of HL is very important to aid treatment decisions and to provide prognostic information and genetic counselling for the patient's family. METHODS: We detected and analysed 362 Chinese non-syndromic HL patients by screening of variants in 15 hot spot mutations. Subsequently, 40 patients underwent further whole-exome sequencing (WES) to determine genetic aetiology...
June 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38860482/loss-of-function-polymorphisms-in-nqo1-are-not-associated-with-the-development-of-subacute-myelo-optico-neuropathy
#5
JOURNAL ARTICLE
Hideki Matsumoto, Hideo Sasai, Norio Kawamoto, Masato Katsuyama, Makoto Minamiyama, Satoshi Kuru, Toshiyuki Fukao, Hidenori Ohnishi
BACKGROUND: Subacute myelo-optico-neuropathy (SMON) is a neurological disorder associated with the administration of clioquinol, particularly at very high doses. Although clioquinol has been used worldwide, there was an outbreak of SMON in the 1950s-1970s in which the majority of cases were in Japan, prompting speculation that the unique genetic background of the Japanese population may have contributed to the development of SMON. Recently, a possible association between loss-of-function polymorphisms in NQO1 and the development of SMON has been reported...
June 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38860481/a-monoallelic-uxs1-variant-associated-with-short-limbed-short-stature
#6
JOURNAL ARTICLE
Cecilie F Rustad, Paul Hoff Backe, Chunsheng Jin, Else Merckoll, Kristian Tveten, Marissa Lucy Maciej-Hulme, Niclas Karlsson, Trine Prescott, Elise Sandås Sand, Berit Woldseth, Katja Benedikte Prestø Elgstøen, Øystein L Holla
BACKGROUND: Serine residues in the protein backbone of heavily glycosylated proteoglycans are bound to glycosaminoglycans through a tetrasaccharide linker. UXS1 encodes UDP-glucuronate decarboxylase 1, which catalyzes synthesis of UDP-xylose, the donor of the first building block in the linker. Defects in other enzymes involved in formation of the tetrasaccharide linker cause so-called linkeropathies, characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures, dislocations, and more...
June 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38860480/discovery-of-a-de-novo-itpr1-missense-mutation-in-a-patient-with-early-onset-cerebellar-ataxia-a-rare-case-report-of-spinocerebellar-ataxia-29
#7
JOURNAL ARTICLE
Jae In Lee, Ja Young Choi, Shin-Seung Yang
BACKGROUND: Spinocerebellar ataxia 29 (SCA29) is a rare genetic disorder characterized by early-onset ataxia, gross motor delay, and infantile hypotonia, and is primarily associated with variants in the ITPR1 gene. Cases of SCA29 in Asia are rarely reported, limiting our understanding of this disease. METHODS: A female Korean infant, demonstrating clinical features of SCA29, underwent evaluation and rehabilitation at our outpatient clinic from the age of 3 months to the current age of 4 years...
June 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38860479/prenatal-diagnosis-of-a-skeletal-disorder-characterized-by-rhizomelic-shortening-of-limbs-caused-by-compound-heterozygous-variants-in-the-pkdcc-gene-case-report-and-literature-review
#8
REVIEW
Jing Wang, Huijun Yu, Xiaoying Zhang, Xiuyun Zhou, Ya Tan, Zhi Li, Ying Gu, Li Lin
BACKGROUND: The protein kinase domain containing cytoplasmic (PKDCC) gene (OMIM#618821) is associated with bone development. Biallelic variants in the PKDCC gene can cause rhizomelic limb shortening with dysmorphic features. CASE REPORT: A fetus was found to be rhizomelic limb shortening at 16 weeks of gestation and amniocentesis was performed at 19 weeks of gestation. Genomic DNA extracted from the amniotic fluid was subjected to chromosomal microarray analysis (CMA), and Trio-total whole-exome sequencing (Trio-WES)...
June 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38860470/social-media-use-by-patients-with-hypermobile-ehlers-danlos-syndrome
#9
JOURNAL ARTICLE
Colin M E Halverson, Tom A Doyle, Samantha Vershaw
BACKGROUND: Patients with uncommon genetic conditions often face limited in-person resources for social and informational support. Hypermobile Ehlers-Danlos syndrome (hEDS) is a rare or underdiagnosed hereditary disorder of the connective tissue, and like those with similar diseases, patients with hEDS have begun to turn to social media in search of care and community. The aims of our study were to understand the usage habits and perceptions of utility of social media use for patients with hEDS in order to formulate suggestions for how clinicians may best engage these and similar patient populations about this topic...
June 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38803233/osteomesopyknosis-associated-with-a-novel-alox5-variant-that-impacts-the-rankl-pathway
#10
JOURNAL ARTICLE
Jose L Fernandez-Luna, José L Hernández, Soraya Curiel-Olmo, Néstor A Martínez-Amador, Ana I Vega, Remedios Quirce, Santiago Montes-Moreno, Olga Gutierrez, Alvaro Del Real, Carolina Sañudo, Jose A Riancho
BACKGROUND: Bone tissue homeostasis relies on the coordinated activity of the bone-forming osteoblasts and bone-resorbing osteoclasts. Osteomesopyknosis is considered a distinctive rare sclerosing skeletal disorder of unelucidated pathophysiology and presumably autosomal dominant transmission. However, the causal genes are unknown. METHODS: We present a case report encompassing clinical assessments, imaging studies, and whole-exome sequencing analysis, complemented by functional in vitro experiments...
May 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38778723/a-new-genetic-diagnosis-strategy-for-paroxysmal-kinesigenic-dyskinesia-targeted-high-throughput-detection-of-prrt2-gene-c-649-locus
#11
JOURNAL ARTICLE
Min Wen, Hui Huang, Fei Huang, Ru Xu, Jing Zhang, Jia-Geng Fan, Jun Zeng, Kai-Wen Jiang, Ding Liu, Hua-Lin Huang, Qing-Nan He
BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is the most prevalent kind type of paroxysmal Dyskinesia, characterized by recurrent and transient episodes of involuntary movements. Most PKD cases were attributed to the proline-rich transmembrane protein 2 (PRRT2) gene, in which the c.649 region is a hotspot for known mutations. Even though some patients with PKD have been genetically diagnosed using whole-exome sequencing (WES) and Sanger sequencing, there are still cases of missed diagnoses due to the limitations of sequencing technology and analytic methods on throughput...
May 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38773911/diagnosis-of-arboleda-tham-syndrome-by-whole-exome-sequencing-in-an-asian-girl-with-severe-developmental-delay
#12
JOURNAL ARTICLE
Qingran Wang, Yujiao Zhang, Li Li, Ning Yang
OBJECTIVE: This study aims to report a severe phenotype of Arboleda-Tham syndrome in a 20-month-old girl, characterized by global developmental delay, distinct facial features, intellectual disability. Arboleda-Tham syndrome is known for its wide phenotypic spectrum and is associated with truncating variants in the KAT6A gene. METHODS: To diagnose this case, a combination of clinical phenotype assessment and whole-exome sequencing technology was employed. The genetic analysis involved whole-exome sequencing, followed by confirmation of the identified variant through Sanger sequencing...
May 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38769899/identification-of-a-new-mutation-in-the-actl9-gene-in-men-with-unexplained-infertility
#13
JOURNAL ARTICLE
Roya Sinaei, Maryam Eslami, Mohammadreza Dadfar, Alihossein Saberi
BACKGROUND: Infertility is defined as the failure to achieve pregnancy after one year of unprotected intercourse within a marital relationship. Approximately 10%-15% of couples worldwide experience infertility issues, with nearly half of these cases attributed to male factors. Among men with unexplained infertility, genetic mutations have been identified as a potential cause. Studies have indicated that mutations affecting the function of the protein encoded by the ACTL9 gene may play a role in male infertility...
May 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38769888/identification-and-functional-analysis-of-a-rare-variant-of-gene-dhx37-in-a-patient-with-46-xy-disorders-of-sex-development
#14
JOURNAL ARTICLE
Wei Jiang, Jing Yu, Yu Mao, Yunman Tang, Li Cao, Qin Du, Jianan Li, Jiyun Yang
BACKGROUND: 46,XY sex reversal 11 (SRXY11) [OMIM#273250] is characterized by genital ambiguity that may range from mild male genital defects to gonadal sex reversal in severe cases. DHX37 is an RNA helicase that has recently been reported as a cause of SRXY11. So far, a total of 21 variants in DHX37 have been reported in 58 cases with 46,XY disorders of sex development (DSD). METHODS: Whole exome sequencing (WES) was conducted to screen for variations in patients with 46,XY DSD...
May 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38760995/mexican-patient-with-ellis-van-creveld-syndrome-and-cleft-palate-importance-of-functional-hemizygosity-and-phenotype-expansion
#15
JOURNAL ARTICLE
Luis Felipe León-Madero, Cesar Humberto Fregoso-Ron, Juan Carlos De León-Carbajal, Juan Manuel Valdés-Miranda
BACKGROUND: Ellis-van Creveld syndrome (EvCS) is a chondroectodermal dysplasia caused by germline pathogenic variants in ciliary complex subunit 1 and 2 genes (EVC, EVC2) on chromosome 4p16.2. This disease has a broad phenotype, and there are few described phenotype-genotype correlations. METHODS: Ethical Compliance: Written informed consent was obtained from the parents. Here, we report a genetically confirmed Mexican patient with EvCS having two inherited pathogenic variants in trans in EVC2: c...
May 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38738460/short-report-twins-with-20p13-duplication-case-report-and-comprehensive-literature-review
#16
REVIEW
Benjamin J Kennedy, Sarah K Savage, Stephen G Kaler
BACKGROUND: Trisomy 20p is a rare genetic condition caused by a duplication of the short arm of chromosome 20. METHODS: We employed clinical observation and molecular genetic testing (SNP microarray), to study identical twin males with an unknown dysmorphic syndrome. We conducted a literature review of trisomy 20p and collated the clinical and molecular genetic findings on 20 affected subjects reported since 2000. RESULTS: Identical twin males, whose prenatal course was complicated by a twin-to-twin transfusion, manifested profound language and neurocognitive delays as well as distinctive facial dysmorphisms when evaluated at 2 years of age...
May 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38733165/identification-of-two-novel-heterozygous-variants-of-smc3-with-cornelia-de-lange-syndrome
#17
JOURNAL ARTICLE
Zhi Lei, Xiaorui Song, Xuan Zheng, Yanhong Wang, Yingyuan Wang, Zhirong Wu, Tian Fan, Shijie Dong, Honghui Cao, Yuefang Zhao, Zhiyi Xia, Liujiong Gao, Qing Shang, Shiyue Mei
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder, and cases caused by variants in the structural maintenance of chromosomes protein 3 (SMC3) gene are uncommon. Here, we report two cases of CdLS associated with novel pathogenic variants in SMC3 from two Chinese families. METHODS: Clinical presentations of two patients with CdLS were evaluated, and specimens from the patients and other family members were collected for Trio-based whole-exome sequencing...
May 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38722107/novel-insight-into-fcsk-congenital-disorder-of-glycosylation-through-a-crispr-generated-cell-model
#18
JOURNAL ARTICLE
Maryam Fazelzadeh Haghighi, Hossein Jafari Khamirani, Jafar Fallahi, Ali Arabi Monfared, Korosh Ashrafi Dehkordi, Seyed Mohammad Bagher Tabei
BACKGROUND: FCSK-congenital disorder of glycosylation (FCSK-CDG) is a recently discovered rare autosomal recessive genetic disorder with defective fucosylation due to mutations in the fucokinase encoding gene, FCSK. Despite the essential role of fucokinase in the fucose salvage pathway and severe multisystem manifestations of FCSK-CDG patients, it is not elucidated which cells or which types of fucosylation are affected by its deficiency. METHODS: In this study, CRISPR/Cas9 was employed to construct an FCSK-CDG cell model and explore the molecular mechanisms of the disease by lectin flow cytometry and real-time PCR analyses...
May 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38702946/compound-heterozygous-abca12-variants-identified-in-a-chinese-patient-with-congenital-ichthyosiform-erythroderma-advancing-genotype-phenotype-correlations-and-literature-review
#19
REVIEW
Jia-Wei Liu, Kexin Guo, Rui Zhang, Rongrong Wang, Dong-Lai Ma, Xue Zhang
BACKGROUND: Ichthyosis is a common keratotic skin disease with high clinical, etiological and genetic heterogeneity. There are four types of non-syndromic hereditary ichthyoses, among which autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of recessive Mendelian disorders. ARCI present with different phenotypes and ABCA12 pathogenic variants have been shown to cause complex ARCI phenotypes, including harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE)...
May 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38666495/mother-s-smoking-habits-affects-il10-methylation-but-not-asthma-in-ecuadorian-children
#20
JOURNAL ARTICLE
Cristina Ochoa-Avilés, Angélica Ochoa-Avilés, Roque Rivas-Párraga, Samuel Escandón, Talita Dos Santos-Jesus, Milca de J Silva, Valderiene Leão, Marco Salinas, Yosselin Vicuña, Lucy Baldeón, María José Molina-Cando, Diana Morillo, Marcos Machuca, Claudia Rodas, Camila Figueiredo, Vivian Alejandra Neira
UNLABELLED: There is no evidence evaluating the IL10 epigenetic upregulation among mestizo children in a high-altitude Andean city in Latin America. OBJECTIVE: To identify polymorphisms and methylation profiles in the IL10 gene associated with asthma in children aged 5 to 11. METHODS: A case-control study was conducted with asthmatic and non-asthmatic children aged 5 to 11 years in Cuenca-Ecuador. Data on allergic diseases and risk factors were collected through a questionnaire for parents...
April 2024: Molecular Genetics & Genomic Medicine
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