Article
Neurosciences
Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, Adele D'Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita
Summary: POLR3B gene encodes the RPC2 subunit of RNA polymerase III, and pathogenic variants are associated with various disorders, including hypomyelinating leukodystrophy and Charcot-Marie-Tooth syndrome type 1I. In this study, a new variant in the POLR3B gene was identified in a patient with developmental delay, epilepsy, and polyneuropathy.
Article
Pediatrics
Majid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Ahmed Alfares, Brahim Tabarki
Summary: This study is the largest cohort of leukodystrophy patients from Saudi Arabia, with 83 children from 61 families recruited. The male-to-female ratio was 1.5:1, and a consanguinity rate of 58.5% was observed. The most common leukodystrophy was metachromatic leukodystrophy (MLD).
FRONTIERS IN PEDIATRICS
(2021)
Editorial Material
Medicine, General & Internal
Torcato Meira, Joao P. Soares-Fernandes
Summary: A 38-year-old woman with a family history of osteopetrosis presented with back pain. CT scan revealed sandwich vertebrae and bone within bone findings.
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
Article
Medicine, General & Internal
Jing-Yi Liu, Yi-Cheng Zhu, Li-Xin Zhou, Yan-Ping Wei, Chen-Hui Mao, Li-Ying Cui, Bin Peng, Ming Yao
Summary: HTRA1-related autosomal dominant cerebral small vessel disease (CSVD) presents as a mild phenotype of CARASIL, with a higher proportion of vascular risk factors, later onset age, and slower clinical progression. The trend of regional concentration of mutation sites may be related to the concentration of key sites responsible for the pathogenesis of HTRA1-related autosomal dominant CSVD.
CHINESE MEDICAL JOURNAL
(2021)
Article
Transplantation
Holly Mabillard, John A. Sayer, Eric Olinger
Summary: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a kidney disease characterized by tubular damage and fibrosis. Mutations in UMOD and MUC1 genes are the most common causes, but other subtypes also exist. Recent international efforts have provided critical insights into the clinical and genetic aspects of ADTKD, as well as advancements in diagnostic approaches and research on cellular pathways.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Clinical Neurology
Shuai Chen, Jin-Long Zou, Shuang He, Wei Li, Jie-Wen Zhang, Shu-Jian Li
Summary: This study reports two Chinese families with adult-onset autosomal dominant leukodystrophy (ADLD), which present clinical and neuroimaging features mimicking neuronal intranuclear inclusion disease (NIID). The families showed slowly progressive central nervous system symptoms and band-like hyperintensities at the cortico-medullary junction on brain MRI, typical for NIID. Additionally, transient hypoglycemia and dilated pupils were recorded for the first time in ADLD. Whole exome sequencing identified a duplication mutation involving the entire LMNB1 gene.
NEUROLOGICAL SCIENCES
(2022)
Article
Endocrinology & Metabolism
Lynda E. Polgreen, Erik A. Imel, Michael J. Econs
Summary: Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis, characterized by generalized osteosclerosis and characteristic radiographic features. It is caused by mutations in the CLCN7 gene, resulting in abnormalities in osteoclast function. ADO can lead to various complications due to bone fragility, nerve impingement, marrow space encroachment, and poor bone vascularity. Currently, there is no disease-specific treatment for ADO, and clinical care focuses on monitoring and symptomatic treatment.
Article
Medicine, General & Internal
Alexander R. Chang, Bryn S. Moore, Jonathan Z. Luo, Gino Sartori, Brian Fang, Steven Jacobs, Yoosif Abdalla, Mohammed Taher, David J. Carey, William J. Triffo, Gurmukteshwar Singh, Tooraj Mirshahi
Summary: This study reveals substantial genetic and phenotypic variability in autosomal dominant polycystic kidney disease (ADPKD) among patients within a regional health system in the US. In addition to PKD1 and PKD2, LOF variants in IFT140, GANAB, and HNF1B were associated with ADPKD diagnosis. Patients with a family history of ADPKD had a higher yield for genetic determinants of the disease.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2022)
Article
Genetics & Heredity
Kyung Seok Oh, Daniel Walls, Sun Young Joo, Jung Ah Kim, Jee Eun Yoo, Young Ik Koh, Da Hye Kim, John Hoon Rim, Hye Ji Choi, Hye-Youn Kim, Seyoung Yu, Richard J. Smith, Jae Young Choi, Heon Yung Gee, Jinsei Jung
Summary: This study found that individuals with non-LCCL domain variants of COCH in East Asian and European-descent families had more severe hearing loss at an earlier age compared to those with variants in the LCCL domain. Functional studies also showed that COCH variants had distinct pathogenic mechanisms in a domain-dependent manner.
Review
Nutrition & Dietetics
Borja Quiroga, Roser Torra
Summary: Autosomal dominant polycystic kidney disease (ADPKD) is a commonly inherited kidney disease, with tolvaptan as the only approved treatment. Dietary modifications, along with other strategies, can help mitigate the adverse effects of tolvaptan and slow disease progression.
Review
Pharmacology & Pharmacy
Thomas Bais, Ron T. Gansevoort, Esther Meijer
Summary: This review discusses the development of new drugs for the treatment of ADPKD, such as CFTR modulators and micro RNA inhibitors. It also explores methods to improve the tolerability of V2RA, select patients with rapid disease progression, and translate preclinical data into clinical practice.
Article
Genetics & Heredity
Shin-ya Nishio, Shin-ichi Usami
Summary: TMC1 gene is associated with hearing loss, predominantly causing autosomal recessive hearing loss and occasionally autosomal dominant hearing loss. In a cohort of about 12,000 subjects, 26 probands with TMC1-associated hearing loss were identified, with 15 cases coming from families with autosomal dominant hearing loss. Family-based haplotype analysis suggested a founder mutation for a specific TMC1 variant among unrelated individuals.
Article
Urology & Nephrology
Monica Furlano, Victor Martinez, Marc Pybus, Yolanda Arce, Jaume Crespi, Maria del Prado Venegas, Gemma Bullich, Andrea Domingo, Nadia Ayasreh, Silvia Benito, Laura Lorente, Patricia Ruiz, Vanesa Lopez Gonzalez, Rosa Arlandis, Elisa Cabello, Ferran Torres, Lluis Guirado, Elisabet Ars, Roser Torra
Summary: The study evaluated the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (ADAS) in 82 families. It found that ADAS patients have a wide range of clinical presentations, with a median kidney survival of 67 years and microhematuria being the most common kidney manifestation.
AMERICAN JOURNAL OF KIDNEY DISEASES
(2021)
Review
Genetics & Heredity
Nima Naseri, Manu Sharma, Milen Velinov
Summary: Neuronal ceroid lipofuscinoses (NCLs) are a group of distinct progressive neurodegenerative disorders characterized by the accumulation of lysosomal auto-fluorescent material called lipofuscin. One form of NCL, which occurs via autosomal-dominant inheritance, has adult onset and is sometimes referred to as Parry type NCL. Symptoms may include behavioral symptoms, seizures, ataxia, dementia, and early death. Mutations in the geneDNAJC5that codes for the presynaptic co-chaperone cysteine string protein-alpha (CSP alpha) have been reported in sporadic adult-onset cases and families with dominant inheritance, and may lead to disease progression through loss and gain of function mechanisms. Iron chelation therapy may be considered as a possible pharmaceutical intervention based on the proposed mechanism of CSP alpha oligomerization via ectopic Fe-S cluster-binding.
Article
Dentistry, Oral Surgery & Medicine
S. K. Wang, H. Zhang, C. Y. Hu, J. F. Liu, S. Chadha, J. W. Kim, J. P. Simmer, J. C. C. Hu
Summary: ADHCAI is a genetic disorder affecting dental enamel hardness, caused by truncation mutations in the FAM83H gene. This study characterized 9 families with ADHCAI and identified 3 novel FAM83H mutations, extending the understanding of the associated phenotypes and genotypes.
JOURNAL OF DENTAL RESEARCH
(2021)