Article
Genetics & Heredity
Jingjing Xiang, Yang Ding, Fei Yang, Ang Gao, Wei Zhang, Hui Tang, Jun Mao, Quanze He, Qin Zhang, Ting Wang
Summary: This study aimed to identify genetic causes of developmental delay and/or intellectual disability in 17 children using whole-exome sequencing and exome-based copy number variation analysis. The overall diagnostic rate was 58.8%, with diagnostic SNVs/Indels accounting for 41.2% and diagnostic CNVs accounting for 17.6%. These findings expand the mutation spectrum of genes related to DD/ID and suggest that exome-based CNV analysis could improve diagnostic yield.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Pietro Palumbo, Ester Di Muro, Maria Accadia, Mario Benvenuto, Marilena Carmela Di Giacomo, Stefano Castellana, Tommaso Mazza, Marco Castori, Orazio Palumbo, Massimo Carella
Summary: Neurodevelopmental disorders (NDDs) are a group of disorders affecting children, with AUTS2 gene being one of the implicated genes. This study presents a case of a 9-year-old boy carrying a deletion mutation in AUTS2, expanding the understanding of its pathogenic variants.
Article
Biochemistry & Molecular Biology
Saman Ameri-Mahabadi, Ali Nikfar, Mojdeh Mansouri, Hossein Chiti, Gita Fatemi Abhari, Negin Parsamanesh
Summary: A new deletion in the DMD gene was identified in an Iranian family with Duchenne muscular dystrophy (DMD). This X-linked inheritance pattern is novel in Iran. These findings will facilitate genetic counseling for this family and other patients in the future.
DNA AND CELL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Arisa Ueki, Kokichi Sugano, Kumiko Misu, Eriko Aimono, Kohei Nakamura, Shigeki Tanishima, Nobuyuki Tanaka, Shuji Mikami, Akira Hirasawa, Miho Ando, Teruhiko Yoshida, Mototsugu Oya, Hiroshi Nishihara, Kenjiro Kosaki
Summary: This case report describes a young-onset renal cell carcinoma (RCC) caused by a genomic FH deletion diagnosed through clinical sequencing. Despite the absence of a family history or skin tumors, the patient exhibited aggressive clinical features and a pathological diagnosis of FH-deficient RCC, suggesting a possible germline FH variant.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Hagar Mor-Shaked, Somaya Salah, Shira Yanovsky-Dagan, Vardiella Meiner, Osama M. Atawneh, Bassam Abu-Libdeh, Orly Elpeleg, Tamar Harel
Summary: Calpainopathies are a group of disorders caused by deficiencies in calpains, which are calcium-specific proteases that modulate substrates through limited proteolysis. The clinical manifestations depend on tissue-specific expression of the defective calpain and substrate specificity. This study expands the phenotypic spectrum associated with CAPN15 variants and suggests that complete loss-of-function is associated with a recognizable syndrome of congenital malformations and developmental delay.
Article
Genetics & Heredity
Qianqian Li, Zhanni Chen, Hui Xiong, Ranran Li, Chenguang Yu, Jingjing Meng, Panlai Shi, Xiangdong Kong
Summary: This paper presents a case study of a 10-year-old boy diagnosed with Duchenne muscular dystrophy (DMD), confirming a large partial exonic deletion through whole exome sequencing. It highlights the clinical importance of using multiple molecular genetic testing methods for the diagnosis of rare diseases.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Takuya Hiraide, Kaori Yamoto, Yohei Masunaga, Miki Asahina, Yusaku Endoh, Yumiko Ohkubo, Tomoko Matsubayashi, Satoshi Tsurui, Hidetaka Yamada, Kumiko Yanagi, Mitsuko Nakashima, Kouichi Hirano, Haruhiko Sugimura, Tokiko Fukuda, Tsutomu Ogata, Hirotomo Saitsu
Summary: Whole-exome sequencing (WES) was performed on 101 Japanese patients with unexplained developmental delay (DD) or intellectual disability (ID), leading to the identification of pathogenic variants, including copy number variants (CNVs) and somatic variants. The presence of autism spectrum disorder and external ear anomalies was associated with the detection of pathogenic variants, highlighting the importance of genetic testing in patients with these conditions.
Article
Medicine, General & Internal
Yu-Xiong Guo, Hong-Xia Ma, Yu-Xin Zhang, Zhi-Hong Chen, Qiong-Xiang Zhai
Summary: This study recruited 21 IDD patients and found that the majority of them had moderate IDD, with 8 patients having seizures and 4 patients exhibiting characteristics of autism. Eleven different variants were identified, with no significant differences in the functional areas results between the gene-positive and gene-negative groups.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2021)
Article
Oncology
Lucas W. Thornblade, Paul Wong, Daneng Li, Susanne G. Warner, Sue Chang, Mustafa Raoof, Jonathan Kessler, Arya Amini, James Lin, Vincent Chung, Gagandeep Singh, Yuman Fong, Laleh G. Melstrom
Summary: Cholangiocarcinomas are rare cancers with potentially targetable mutations, and a third of patients undergoing resection in the past decade have had tumor genomic profiling, with 89% harboring targetable mutations. While targeted therapies were identified in most sequenced tumors, only 4% of patients received these therapies, highlighting the potential for precision medicine in the future care of cholangiocarcinoma.
Article
Genetics & Heredity
Lina Zhu, Fujun Peng, Zengwen Deng, Zhichun Feng, Xiuwei Ma
Summary: Pathogenic variants in the CHD2 gene exhibit a wide range of phenotypic variability in neurodevelopmental disorders. This study reports a Chinese patient with a novel CHD2 mutation, who presented with developmental delay, myoclonic epilepsy, and hypothyroidism. The study also summarizes the clinical manifestations and genotypes of 144 individuals with CHD2 variants associated with epileptic encephalopathy.
FRONTIERS IN GENETICS
(2022)
Article
Cardiac & Cardiovascular Systems
Jamie O. Yang, Hapet Shaybekyan, Yan Zhao, Xuedong Kang, Gregory A. Fishbein, Negar Khanlou, Juan C. Alejos, Nancy Halnon, Gary Satou, Reshma Biniwale, Hane Lee, Glen Van Arsdell, Stanley F. Nelson, Marlin Touma
Summary: We present a case study of a 3-year-old female with hypertrophic cardiomyopathy and lactic acidosis. Biopsies of the cardiac and skeletal muscles showed mitochondrial hyperplasia and reduced activity of complex IV. Further analysis through whole exome sequencing revealed compound heterozygous variants in the TSFM gene, which encodes a mitochondrial translation elongation factor. This genetic abnormality led to impaired oxidative phosphorylation and the development of juvenile hypertrophic cardiomyopathy.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Genetics & Heredity
Rai-Hseng Hsu, Chen-Hao Lee, Yin-Hsiu Chien, Shuan-Pei Lin, Miao-Zi Hung, Nai-Chi Chen, Yi-Lin Lin, Wuh-Liang Hwu, Ni-Chung Lee
Summary: This study evaluated a referral system to increase the yield of whole-exome sequencing (WES) for congenital anomalies (CAs). The study found that pathogenic variants in 14 genes were discovered in 16 patients with CA, resulting in a positive diagnostic rate of 40%. However, more than half of the CA patients still do not have a genetic diagnosis by current technologies.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Neurosciences
Cong Zhou, Hongmei Zhu, Qinqin Xiang, Jingqun Mai, Xihan Wang, Jing Wang, Shanling Liu
Summary: This study aimed to identify pathogenic variants in a Chinese girl with developmental delay, impaired social interaction, and autistic behavior. Whole-exome sequencing revealed a pathogenic variant in the DYRK1A gene, providing important information for molecular diagnosis.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Go Hun Seo, Hane Lee, Jungsul Lee, Heonjong Han, You Kyung Cho, Minji Kim, Yunha Choi, Jeongmin Choi, In Hee Choi, Seonkyeong Rhie, Kyu Young Chae, Yoo-Mi Kim, Chong Kun Cheon, Su Jin Kim, Jieun Lee, Eungu Kang, Jung Hye Byeon, Hee Joon Yu, Young-Lim Shin, Arum Oh, Woo Jin Kim, Mi-Sun Yum, Beom Hee Lee, Baik-Lin Eun
Summary: Daily updated databases and reanalysis systems enhance the diagnostic performance in patients with NDD/ID, contributing to the rapid diagnosis of undiagnosed patients by applying the latest molecular genetic information.
MOLECULAR MEDICINE
(2022)
Article
Medicine, General & Internal
Su-Jung Park, Narae Lee, Seong-Hee Jeong, Mun-Hui Jeong, Shin-Yun Byun, Kyung-Hee Park
Summary: The prevalence of genetic causes in SGA infants without known risk factors was 22%, and targeted-panel sequencing or whole-exome sequencing was effective in diagnosing the etiology of SGA infants without a known cause.
JOURNAL OF CLINICAL MEDICINE
(2022)