Article
Cell Biology
Leming Fu, Ya Li, Shun Yao, Qingge Guo, Ya You, Xianjun Zhu, Bo Lei
Summary: Novel compound heterozygous variants in ARL3 were associated with early onset autosomal recessive rod-cone dystrophy (RCD), while c.91A>G alone may be linked to late onset dominant cone-rod dystrophy (CRD). The two variants in ARL3 could potentially lead to pathogenicity by destabilizing the ARL3 protein and disrupting its interaction with RP2.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Genetics & Heredity
Rui Han, Manman Chu, Jinshuang Gao, Junling Wang, Mengyue Wang, Yichao Ma, Tianming Jia, Xiaoli Zhang
Summary: The mitochondrial protein THG1L plays a crucial role in tRNA maturation process and its malfunction leads to abnormal mitochondrial tRNA modification and neurodevelopmental disorders. A study revealed compound heterozygous variants in THG1L in a 6-year-old boy with cerebellar ataxia, expanding the gene variation and clinical spectrum of THG1L-related cerebellar ataxia. The identified variants impacted the RNA and protein expression of THG1L.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Ethiraj Ravindran, Gaetan Lesca, Louis Januel, Linus Goldgruber, Achim Dickmanns, Henri Margot, Angela M. Kaindl
Summary: The study reports NUP85 gene mutations in two unrelated individuals with primary autosomal recessive microcephaly (MCPH) and Seckel syndrome (SCKS) without symptoms of steroid-resistant nephrotic syndrome (SRNS). The mutations were found to result in reduced cell viability and altered structure and interactions of NUP85, further highlighting the crucial role of NUP85 in brain development and function.
FRONTIERS IN NEUROLOGY
(2023)
Article
Cell Biology
Yanxia Huang, Lamei Yuan, Guiyun He, Yanna Cao, Xiong Deng, Hao Deng
Summary: This study identified novel compound heterozygous variants in the USH2A gene as the genetic causes of autosomal recessive RP in a Han-Chinese pedigree. The findings contribute to the understanding of the pathogenesis of USH2A-associated phenotypes and expand the spectrum of USH2A gene variants, providing insights for improved genetic counseling, prenatal diagnosis, and disease management.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Christina Zeitz, Cecile Mejecase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa Demontant, Lisa Emmenegger, Audrey Schalk, Marion Neuille, Elise Orhan, Sebastien Augustin, Crystel Bonnet, Amrit Estivalet, Frederic Blond, Steven Blanchard, Camille Andrieu, Sandra Chantot-Bastaraud, Thierry Leveillard, Saddek Mohand-Said, Jose-Alain Sahel, Isabelle Audo
Summary: This study identified a novel pathogenic gene defect linked to a relatively mild inherited retinal disorder. It also revealed the localization of a specific protein in the retina for the first time, implicating its association with mitochondrial dysfunction. The findings contribute to the understanding of the pathogenic mechanisms in non-syndromic inherited retinal disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Man Liu, Yingchuan Zhu, Lian Huang, Wenhao Jiang, Na Wu, Yue Song, Yilu Lu, Yongxin Ma
Summary: This study identified KCNV2 gene mutations in a Chinese CDSRR family, expanding the spectrum of mutations associated with CDSRR. In vitro functional experiments showed that mutated alleles led to the failure of Kv8.2 proteins to express and interact with Kv2.1 protein, suggesting a potential mechanism for the etiology of CDSRR.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Genetics & Heredity
Fang Fu, Ru Li, Ting-ying Lei, Dan Wang, Xin Yang, Jin Han, Min Pan, Li Zhen, Jian Li, Fa-tao Li, Xiang-yi Jing, Dong-zhi Li, Can Liao
Summary: This study identified compound heterozygous mutations in the ASXL3 gene associated with congenital heart disease, which may influence cardiac development through affecting cell apoptosis and cardiac structure. The mutations affected the expression of mRNAs associated with cell apoptosis and proliferation, suggesting a potential role of ASXL3 in cardiac development.
Article
Biochemistry & Molecular Biology
Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valerie Pelletier, Beatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Said, Sabine Defoort-Dhellemmes, Jose-Alain Sahel, Helene Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Summary: Variants of the TTLL5 gene have been identified as a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). This study reports on five patients with biallelic variants of TTLL5, highlighting the importance of large deletions and suggesting that patients lacking variants in known genes may harbor CNVs to be discovered in TTLL5. Variable phenotypes in TTLL5-associated patients may be due to the presence of additional gene defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Yuan Jin, Xiao-Zhou Liu, Le Xie, Wen Xie, Sen Chen, Yu Sun
Summary: Hearing loss is a common congenital sensory impairment, with genetic causes being a significant factor. A study found that mutations in the PTPRQ gene are associated with hereditary sensorineural hearing loss, providing insights into the relationship between genotype and hearing phenotype and aiding in clinical management and genetic counseling.
FRONTIERS IN GENETICS
(2022)
Article
Oncology
Cheng Zhang, Xueping Zheng, Deguo Lu, Lulu Xu, Fengyuan Che, Shiguo Liu
Summary: A Chinese patient with limb-girdle muscular dystrophy recessive 1 was found to have compound heterozygous variants in the CAPN3 gene, expanding the variant spectrum of this gene. This discovery is important for improving the development of molecular diagnostic tools and providing genetic counseling for patients with a family history of the disease.
MOLECULAR MEDICINE REPORTS
(2021)
Article
Ophthalmology
Obaid Imtiyazul Haque, Anbukayalvizhi Chandrasekaran, Faisal Nabi, Owais Ahmad, Joao Pedro Marques, Tanweer Ahmad
Summary: This study describes the clinical features, imaging characteristics, and genetic test results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy. The siblings presented with reduced visual acuity and bilateral subretinal deposits, and genetic testing confirmed the presence of two mutations in the BEST1 gene. Gene sequencing is an important tool for diagnosing and assessing genetic variations in this disease.
Article
Genetics & Heredity
Junyu He, Xin Liu, Liyi Liu, Shaohao Zeng, Shuanghong Shan, Zhihong Liao
Summary: Boucher-Neuhauser syndrome is a rare genetic disorder characterized by symptoms such as night blindness and hypogonadotropic hypogonadism. Gene sequencing is the primary diagnostic method for this syndrome, and two novel PNPLA6 gene variants were identified in a patient with BNS in this case report.
FRONTIERS IN GENETICS
(2022)
Article
Endocrinology & Metabolism
Xiaolin Ni, Yiyi Gong, Yan Jiang, Xiang Li, Qianqian Pang, Wei Liu, Yue Chi, Ruizhi Jiajue, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia
Summary: This study reports the first case of compound heterozygous DMP1 mutations in a Chinese patient with autosomal recessive hypophosphatemic rickets type 1 (ARHR1). The mutations were a large deletion and a novel start codon mutation (c.1A > T, p.Met1Leu). The findings suggest a potential association of these mutations with the development of ARHR1.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Biology
Amanda M. Travis, Samiya Manocha, Jason R. Willer, Timothy S. Wessler, Nikolai P. Skiba, Jillian N. Pearring
Summary: The small GTPase Arl3 plays an important role in enriching lipidated proteins in primary cilia, including the outer segment of photoreceptors. Mutations in Arl3 cause both autosomal recessive and dominant inherited retinal dystrophies. Dominant mutations result in increased activity of G-protein-Arl3-D67V and fast cycling of Arl3-Y90C, leading to a displaced nuclear phenotype in mouse rods. By manipulating the Arl3-GTP gradient, we show that it is involved in proper positioning of photoreceptor nuclei during retinal development.
Article
Urology & Nephrology
Veronica Arora, Suliman Khan, Ayman W. El-Hattab, Ratna Dua Puri, Maria Eugenia Rocha, Rijad Merdzanic, Omid Paknia, Christian Beetz, Arndt Rolfs, Aida M. Bertoli-Avella, Peter Bauer, Ishwar C. Verma
Summary: A study identified the causal role of GFRA1 gene variants in bilateral renal agenesis, potentially manifesting as an autosomal recessive, nonsyndromic form. This finding will facilitate early genetic diagnosis and improved genetic counseling for families at risk of BRA.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)