Article
Genetics & Heredity
Xuefeng Xie, Mazhar Khan, Muhammad Zubair, Abbas Khan, Ranjha Khan, Jianteng Zhou, Yuanwei Zhang, Muzafar Said, Sher Ali Khan, Qamar Zaman, Ghulam Murtaza, Muzamil Ahmad Khan, Wei Liu, Xiaoning Hou, Huan Zhang, Bo Xu, Xiaohua Jiang, Shun Bai, Qinghua Shi
Summary: Non-obstructive azoospermia (NOA) is a major cause of male infertility, with the majority of cases remaining idiopathic. This study identified a novel missense mutation in the DND1 gene using whole-exome sequencing, and demonstrated its impact on male fertility through protein misfolding and weakened interaction with the crucial regulator NANOS2 in primordial germ cell development.
FRONTIERS IN GENETICS
(2022)
Review
Genetics & Heredity
Manhua Xu, Kaiming Li, Weimin He
Summary: This study reported a rare case of MSP phenotype associated with novel compound heterozygous mutations in the LTBP2 gene using NGS technology.
BMC MEDICAL GENOMICS
(2021)
Article
Medical Laboratory Technology
Rui Zhang, Yajing Hao, Ying Xu, Jiale Qin, Yanfang Wang, Subrata Kumar Dey, Chen Li, Huilin Wang, Santasree Banerjee
Summary: This study identified a novel mutation in the SUOX gene associated with isolated sulfite oxidase deficiency and highlighted the significance of whole exome sequencing in identifying candidate genes and novel disease-causing variants.
CLINICA CHIMICA ACTA
(2022)
Article
Health Care Sciences & Services
ZhiHong Lin, MinJuan Zhu, HongWei Deng
Summary: Weill-Marchesani syndrome (WMS) is an autosomal inherited connective tissue disease characterized by eye abnormalities and short stature. This case report presented a patient with a WMS-like syndrome due to a mutation in the LTBP2 gene, which has not been previously documented in East Asia.
RISK MANAGEMENT AND HEALTHCARE POLICY
(2021)
Article
Genetics & Heredity
Guoliang Jiang, Lijun Zou, Lingzhi Long, Yijun He, Xin Lv, Yuanyuan Han, Tingting Yao, Yan Zhang, Mao Jiang, Zhangzhe Peng, Lijian Tao, Wei Xie, Jie Meng
Summary: In this study, a female patient with PCD was diagnosed through clinical manifestations, electron microscopy, and immunofluorescence staining. A novel DNAAF4 variant was identified through Whole-exome sequencing. The study confirmed that the mutation led to PCD by reducing the stability of DNAAF4 protein.
FRONTIERS IN GENETICS
(2022)
Article
Dermatology
Mingfeng Li, Kenneth Lay, Andreas Zimmer, Kristin Technau-Hafsi, Jasmine Wong, Antonia Reimer-Taschenbrecker, Jan Rohr, Ebtesam Abdalla, Judith Fischer, Bruno Reversade, Cristina Has
Summary: A previously unreported NLRP1 gene variant was identified, leading to different clinical presentations in two sisters. The variant triggered the activation of inflammation and resulted in different severity of skin manifestations.
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Article
Genetics & Heredity
Zhengxia Zhong, Xiaoyong Yan, Zhengying Fang, Yijun Dong, Jiaxing Tan, Jingyuan Xie, Linhong Hu, Shibin Zhang, Wei Qin
Summary: This study describes a rare case of adolescent-onset NPHP caused by a novel homozygous INVS mutation. The patient progressed to ESRD at the age of 15 years.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Nagia Fahmy, Kathrin Mueller, Peter Munch Andersen, Stefan L. Marklund, Markus Otto, Albert C. Ludolph, Nabila Hamdi
Summary: This study reports a rare case of homozygous SOD1 mutation leading to early onset and severe lower motor neuron-dominant ALS. The mutation resulted in decreased enzymatic activity and the patient exhibited significantly elevated serum neurofilament light chain levels.
JOURNAL OF NEUROLOGY
(2023)
Article
Genetics & Heredity
Hammad Yousaf, Shagufta Rehmat, Muhammad Jameel, Rabab Ibrahim, Sohana Nadeem Hashmi, Ehtisham Ul Haq Makhdoom, Justyna Iwaszkiewicz, Saadia Maryam Saadi, Muhammad Tariq, Shahid M. Baig, Mathias Toft, Ambrin Fatima, Zafar Iqbal
Summary: Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) is a rare childhood-onset movement disorder characterized by paroxysmal dyskinesia, developmental delay, impaired cognition, progressive psychomotor deterioration, and drug-refractory seizures. In this study, we identified a novel missense variant in the Phosphodiesterase 2A (PDE2A) gene in three consanguineous Pakistani families with overlapping phenotypes. Haplotype analysis revealed a shared haplotype among the families, suggesting a founder effect in this region. Our findings expand the clinical and mutation spectrum of PDE2A-related recessive disease.
Article
Biochemistry & Molecular Biology
Juan Hua, Bo Xu, Wenjing Liu, JingTian Shi, Hui Jiang, XiaoJun Zha, Xiansheng Zhang, Yangyang Wan
Summary: This study identified a new mutation (c.151delG) in the POC1B gene that is associated with both cone-rod dystrophy (CORD) and oligoasthenoteratozoospermia (OAT). The mutation results in loss of POC1B protein in sperm cells. Using CRISPR/Cas9 technology, the mutation was introduced into mice, which showed OAT phenotype and abnormal acrosome and flagella formation in sperm and testicular histology.
HUMAN MOLECULAR GENETICS
(2023)
Article
Genetics & Heredity
Mengmeng Lu, Shuai Kong, Mingfei Xiang, Yu Wang, Jingjing Zhang, Zongliu Duan, Xiaomin Zha, Fengsong Wang, Yunxia Cao, Fuxi Zhu
Summary: In this study, a novel homozygous missense mutation of PMFBP1 was identified in an infertile male from a consanguineous family, leading to a significant decrease in expression of the mutant protein in sperm. This mutation may be a cause of acephalic spermatozoa syndrome, providing a basis for genetic counseling for the patient.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Obstetrics & Gynecology
Tingting Zou, Qingsong Xi, Zhenxing Liu, Zhou Li, Meiqi Hou, Lixia Zhu, Lei Jin, Xianqin Zhang
Summary: In this study, a novel mutation in the ZP1 gene was identified using whole-exome sequencing. The study confirmed the important role of the ZP1 gene in human female reproduction, expanded the mutation spectrum of the gene, and increased its application in the clinical and molecular diagnosis of EFS.
REPRODUCTIVE SCIENCES
(2022)
Article
Genetics & Heredity
Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ali Ghazanfar, Nadine Kraemer, Sami Zaqout, Abdul Waheed, Mohsan Hanif, Sadia Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M. Kaindl
Summary: Mutations in MCM7 are identified as a novel cause of autosomal recessive primary microcephaly (MCPH) and intellectual disability, highlighting its crucial role in nervous system development. The expression pattern of MCM7 is consistent in mouse and human cells, affecting cell viability and proliferation.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Public, Environmental & Occupational Health
Xiaoxia Wang, Huimin Zhu, Yi He, Jun Zeng, Jing Zhao, Qiuping Xia, Lingqian Wu, Zhongyuan Yao, Yanping Li
Summary: Through whole-exome sequencing, a novel mutation in the PADI6 gene was identified, expanding the genetic spectrum of early embryo arrest and providing a new direction for infertility etiology research.
REPRODUCTIVE HEALTH
(2022)
Article
Genetics & Heredity
Mojiang Li, Yingshu Li, Huixing Liu, Haiyan Zhou, Wanqin Xie, Qinghua Peng
Summary: This study describes a patient with a homozygous ADAMTSL2 p.Gly656Ser variant, further increasing our understanding of the genotype-phenotype correlation in acromelic dysplasias.
FRONTIERS IN GENETICS
(2022)
Article
Developmental Biology
Lorena Maili, Ariadne Letra, Renato Silva, Edward P. Buchanan, John B. Mulliken, Matthew R. Greives, John F. Teichgraeber, Steven J. Blackwell, Rohit Ummer, Ryan Weber, Brett Chiquet, Susan H. Blanton, Jacqueline T. Hecht
BIRTH DEFECTS RESEARCH
(2020)
Article
Genetics & Heredity
Vershanna E. Morris, S. Shahrukh Hashmi, Lisha Zhu, Lorena Maili, Christian Urbina, Steven Blackwell, Matthew R. Greives, Edward P. Buchanan, John B. Mulliken, Susan H. Blanton, W. Jim Zheng, Jacqueline T. Hecht, Ariadne Letra
Article
Clinical Neurology
Nicole D. Dueker, Brett Doliner, Hannah Gardener, Chuanhui Dong, Ashley Beecham, David Della-Morte, Ralph L. Sacco, Susan H. Blanton, Liyong Wang, Tatjana Rundek
Article
Cell Biology
Christina Kiel, Tobias Strunz, Susan Blanton, Felix Grassmann, Bernhard H. F. Weber
Article
Genetics & Heredity
Rosemary Ida Kabahuma, Wolf-Dieter Schubert, Christiaan Labuschagne, Denise Yan, Susan Halloran Blanton, Michael Sean Pepper, Xue Zhong Liu
Summary: Mutations in the MYO7A gene can cause a phenotypic spectrum ranging from DFNB2 hearing loss to USH1B deaf-blindness, with novel mutations identified in a South African population suggesting DFNB2 as a specific entity that may occur in a homozygous or compound heterozygous state.
Review
Clinical Neurology
Christine Mei, Hongsong Dong, Eric Nisenbaum, Torin Thielhelm, Aida Nourbakhsh, Denise Yan, Molly Smeal, Yesha Lundberg, Michael E. Hoffer, Simon Angeli, Fred Telischi, Guohui Nie, Susan H. Blanton, Xuezhong Liu
Summary: Vestibular disorders are a diverse group of conditions stemming from pathology in the inner ear, with a genetic basis similar to inherited hearing loss. Increasing research interest in vestibular disorder genetics and the use of new genetic tools may lead to personalized gene therapy for specific disorders.
FRONTIERS IN NEUROLOGY
(2021)
Review
Biochemistry & Molecular Biology
Evan M. de Joya, Brett M. Colbert, Pei-Ciao Tang, Byron L. Lam, Jun Yang, Susan H. Blanton, Derek M. Dykxhoorn, Xuezhong Liu
Summary: Hearing loss is a common sensory disorder affecting approximately 466 million people worldwide, with a significant portion being genetic. Usher syndrome is a syndromic form of genetic hearing loss that is often accompanied by retinitis pigmentosa and vestibular dysfunction. Currently, cochlear implantation or hearing aids are the main treatment options for Usher-related hearing loss.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Multidisciplinary Sciences
Yinfang Xu, Yan Zhang, Ivan A. Lopez, Jacey Hilbers, Anthony J. Griswold, Akira Ishiyama, Susan Blanton, Xue Zhong Liu, Yunxia Wang Lundberg
Summary: This study identified a specific variant in the PCDHGA10 gene that may be associated with some familial cases of idiopathic BPPV, suggesting a potential genetic factor in the susceptibility to this common form of vertigo.
Article
Cell Biology
Juan I. Young, Susan Slifer, Jacqueline T. Hecht, Susan H. Blanton
Summary: NSCLP is a common craniofacial birth defect with a complex etiology involving multiple genes and environmental factors. Studies suggest that differential methylation may be one mechanism contributing to NSCLP, highlighting the need for future research on the role of DNA methylation in both familial and sporadic cases.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Genetics & Heredity
Jessica D. Leuchter, Priyen M. Patel, Kayla M. Fourzali, Talia R. Donenberg, Rachel Silva-Smith, Nicolette C. Vassallo, Susan H. Blanton, Dipen J. Parekh, Irman Forghani
Summary: The study demonstrates low adherence to ACMG/NSGC genetic referral guidelines at our institution, highlighting the need to increase awareness among patients and practitioners about the importance of genetic assessment for RCC patients and their family members.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Review
Audiology & Speech-Language Pathology
Eric Nisenbaum, Torin P. Thielhelm, Aida Nourbakhsh, Denise Yan, Susan H. Blanton, Yilai Shu, Karl R. Koehler, Aziz El-Amraoui, Zhengyi Chen, Byron L. Lam, Xuezhong Liu
Summary: Usher syndrome is a group of disorders characterized by hearing loss, vestibular dysfunction, and vision loss. It is divided into three clinical subtypes and is associated with numerous genes. The relationship between genotype and phenotype may vary depending on the mutation location and type. Understanding these relationships is crucial for the development of gene-based therapies.
Article
Multidisciplinary Sciences
Minwoo Wendy Jang, Doo-Yi Oh, Eunyoung Yi, Xuezhong Liu, Jie Ling, Nayoung Kim, Kushal Sharma, Tai Young Kim, Seungmin Lee, Ah-Reum Kim, Min Young Kim, Min-A Kim, Mingyu Lee, Jin-Hee Han, Jae Joon Han, Hye-Rim Park, Bong Jik Kim, Sang-Yeon Lee, Dong Ho Woo, Jayoung Oh, Soo-Jin Oh, Tingting Du, Ja-Won Koo, Seung-Ha Oh, Hyun-Woo Shin, Moon-Woo Seong, Kyu-Yup Lee, Un-Kyung Kim, Jung Bum Shin, Shushan Sang, Xinzhang Cai, Lingyun Mei, Chufeng He, Susan H. Blanton, Zheng-Yi Chen, Hongsheng Chen, Xianlin Liu, Aida Nourbakhsh, Zaohua Huang, Kwon-Woo Kang, Woong-Yang Park, Yong Feng, C. Justin Lee, Byung Yoon Choi
Summary: The study identified a deafness gene TMEM43 associated with progressive deafness, mainly expressed in cochlear glia-like supporting cells. Cochlear implantation was performed on patients with ANSD caused by TMEM43 gene mutation, successfully restoring speech discrimination.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Multidisciplinary Sciences
Nicole D. Dueker, Ashley Beecham, Liyong Wang, Chuanhui Dong, Ralph L. Sacco, Susan H. Blanton, Tatjana Rundek
Summary: Carotid plaque, a subclinical measure of atherosclerosis, is found to be influenced by common and rare variants in specific regions. The study identified potential genes associated with plaque presence and provided biological plausibility for their involvement in atherosclerosis.
Article
Geriatrics & Gerontology
Nicole Dueker, Liyong Wang, Hannah Gardener, Lissette Gomez, Sonya Kaur, Ashley Beecham, Susan H. Blanton, Chuanhui Dong, Jose Gutierrez, Ying Kuen Cheung, Yeseon P. Moon, Bonnie Levin, Clinton B. Wright, Mitchell S. V. Elkind, Ralph L. Sacco, Tatjana Rundek
Summary: This study conducted a genome-wide association study on executive function in a racially and ethnically diverse cohort. They identified several SNPs in the LINC01362 gene on chromosome 1p31.1 that were significantly associated with executive function. These SNPs were found to influence the expression of genes involved in executive function in various regions of the brain.
NEUROBIOLOGY OF AGING
(2023)
Review
Otorhinolaryngology
Jennifer Coto, Carmen L. Alvarez, Ivette Cejas, Brett M. Colbert, Bonnie E. Levin, Joshua Huppert, Tatjana Rundek, Carey Balaban, Susan H. Blanton, David J. Lee, David Loewenstein, Michael Hoffer, Xue Zhong Liu
Summary: The study emphasizes the importance of examining the individual contributions of factors such as balance, vision, and cognition in age-related vestibular loss. While the relationship between the vestibular and visual systems has been well studied, little is known about the association of the peripheral vestibular system with neurodegenerative disorders. Emerging research suggests that the vestibular system can be a key factor in examining brain function beyond balance, into areas such as cognition and psychological functioning.
JOURNAL OF OTOLOGY
(2021)