Review
Medicine, General & Internal
Chaitanya Gadepalli, Karolina M. Stepien, Reena Sharma, Ana Jovanovic, Govind Tol, Andrew Bentley
Summary: This study reviewed 31 adult MPS patients, proposing a Salford Mucopolysaccharidosis Airway Score (SMAS) to assess the severity of airway disease. It was found that an SMAS score above 25 may predict difficult airways and potential complications.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Andrology
Fang Gao, Fei Ye, Qian Zhang, Yaoqiang Du, Weihai Xu, Ming Qi, Guolian Ding, Ling Zhang, Chongyi Shu, Xiaoyan Guo, Shishi Li, Min Zheng, Liannv Qiu, Amanda Zhou, Liya Sun, Jing Shu
Summary: In this study, a novel compound heterozygous mutation of FSIP2 was identified using whole-exome sequencing in a 32-year-old male with MMAF. The identified mutations resulted in abnormal flagella construction, as shown by electron microscopy images, and the absence of FSIP2 in sperm cells. A potential functional domain deletion (5901-6774) of FSIP2 was predicted to be responsible for the phenotype.
Article
Biochemistry & Molecular Biology
Sophie Sleiman, Aren E. Marshall, Xiaomin Dong, Aziz Mhanni, Ismael Alidou-D'Anjou, Patrick Frosk, Samantha E. Marin, Zornitza Stark, Marc R. Del Bigio, Arran McBride, Simon Sadedin, Lyndon Gallacher, John Christodoulou, Kym M. Boycott, Francois Dragon, Kristin D. Kernohan
Summary: SHQ1 has been identified as associated with neurological diseases, including early-onset dystonia, and this study begins to uncover the molecular etiology of this novel condition.
HUMAN MOLECULAR GENETICS
(2022)
Review
Pediatrics
Robert M. Tuliszewski, Matthew T. Brigger
Summary: This review discusses the pathological changes in the neonatal airway, including diagnostic methods and innovative surgical techniques. Advancements in technology are expected to improve surgical management and provide better treatment outcomes.
CURRENT OPINION IN PEDIATRICS
(2022)
Article
Genetics & Heredity
Ting Wang, Qingshan Chen, Xue Yao, Longhao Kuang, Run Gan, Jiantao Wang, Xiaohe Yan
Summary: BCD is caused by mutations in the CYP4V2 gene and can lead to legal blindness. Our study identified compound heterozygous mutations in CYP4V2 in two female siblings with BCD, expanding our understanding of the genetic causes of the disease.
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
Genetics & Heredity
Chisei Satoh, Tatsuro Kondoh, Hitomi Shimizu, Akira Kinoshita, Hiroyuki Mishima, Gen Nishimura, Mutsuko Miyazaki, Kunihiko Okano, Yoshihiko Kumai, Koh-Ichiro Yoshiura
Summary: COL27A1 encodes the collagen type XXVII alpha 1 chain and is associated with Steel syndrome. Novel compound heterozygous COL27A1 variants were identified in two brothers, showing skeletal, dental, and genital abnormalities that have not been reported before.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Article
Multidisciplinary Sciences
Hong Xia, Xiangjun Huang, Sheng Deng, Hongbo Xu, Yan Yang, Xin Liu, Lamei Yuan, Hao Deng
Summary: This study identified pathogenic variants in the DNAH11 gene leading to HTX and CHD in a Chinese family using exome sequencing and Sanger sequencing. These findings may provide new insights for genetic counseling in families affected by HTX.
Article
Multidisciplinary Sciences
Ikhyun Jun, Yong Woo Ji, Seung-il Choi, Bo Ram Lee, Ji Sang Min, Eung Kweon Kim
Summary: This study investigated the association between compound heterozygosity in the TGFBI gene and severe phenotypes of GCD2. Multiple novel and known mutations were identified, highlighting the importance of identifying TGFBI second mutations in patients with severe phenotypes. The findings emphasize the need for precise observation of genotype-phenotype correlation and additional care in treating TGFBI corneal dystrophies.
SCIENTIFIC REPORTS
(2021)
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)
Review
Pediatrics
Adithya Srikanthan, Samantha Scott, Vilok Desai, Lara Reichert
Summary: This review article provides an overview of common and rare neonatal airway abnormalities, including their embryology, workup, and treatment, aiming to equip healthcare professionals with a broad differential diagnosis and basic management knowledge for basic and complex presentations.
Article
Biochemistry & Molecular Biology
Ilaria Palmieri, Marialuisa Valente, Lisa Maria Farina, Simone Gana, Brigida Minafra, Roberta Zangaglia, Orietta Pansarasa, Daisy Sproviero, Alfredo Costa, Claudio Pacchetti, Anna Pichiecchio, Stella Gagliardi, Cristina Cereda
Summary: This study analyzed the genetic basis of a 55-year-old patient with CAA and cognitive decline, identifying two compound heterozygous mutations in PSEN1. These mutations in PSEN1 were found to cause CAA and cognitive decline, highlighting the importance of genetic analysis in patients with presenile cognitive decline and cerebral microbleeds observed on MRI.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Masamune Sakamoto, Kenji Kurosawa, Koji Tanoue, Kazuhiro Iwama, Fumihiko Ishida, Yoshihiro Watanabe, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
Summary: In this study, a de novo germline deletion variant within the USP8 gene was identified in a patient with severe developmental delay, dysmorphic features, and multiorgan dysfunction. This variant may lead to perturbation of the endosomal sorting system and mitochondrial autophagy in the patient.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Physiology
Fang Li, Miao Yu, Zhuangzhuang Fan, Junyi Wu, Hua Tian, Hailan Feng, Yang Liu, Haochen Liu, Dong Han
Summary: This study aimed to identify pathogenic gene variants and investigate the phenotypic characteristics of a patient with junctional epidermolysis bullosa (JEB). Through clinical examination, whole-exome sequencing, and histological examination, it was found that the patient carried rare compound heterozygous variants of LAMB3 and exhibited abnormal enamel morphology and microstructures in the teeth, as well as abnormal epithelial cells in the oral mucosa.
FRONTIERS IN PHYSIOLOGY
(2022)
Article
Genetics & Heredity
Kento Matoba, Norio Chihara, Wataru Satake, Hideki Tokuoka, Yoshihisa Otsuka, Takehiro Ueda, Kenji Sekiguchi, Masayuki Itoh, Riki Matsumoto
Summary: This study describes two long-surviving siblings with a mild phenotype of Joubert syndrome (JBTS) who carry a novel compound heterozygous missense variant in the CPLANE1 gene. The findings confirm the role of the CPLANE1 gene in JBTS and provide an opportunity for neurologists to recognize JBTS as a differential diagnosis for chronic progressive ataxia, especially in an aging society.
NEUROLOGY-GENETICS
(2022)
Article
Multidisciplinary Sciences
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
NATURE COMMUNICATIONS
(2019)
Article
Clinical Neurology
Yuiko Hasegawa, Eriko Nishi, Yuko Mishima, Tomohiro Sakaguchi, Futoshi Sekiguchi, Noriko Miyake, Karin Kojima, Hitoshi Osaka, Naomichi Matsumoto, Nobuhiko Okamoto
Summary: Our report presents two sisters with novel compound heterozygous variants in DDC (c.202G > A and c.254C > T), who mainly exhibited mild developmental delay. Whole-exome sequencing (WES) helped in diagnosing the patients, and a three-dimensional structure image showcasing the variants responsible for the catalysis of AADC was provided. The patients were prescribed a Monoamine oxidase (MAO) inhibitor after diagnosis, suggesting the importance of understanding the variations of AADC deficiency for accurate diagnosis and treatment.
BRAIN & DEVELOPMENT
(2021)
Article
Genetics & Heredity
Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Naomi Tsuchida, Hiromi Aoi, Yoshiteru Azuma, Toshiyuki Itai, Ken Saida, Hiromi Fukuda, Futoshi Sekiguchi, Tomohiro Sakaguchi, Ming Lei, Sachiko Ohori, Masamune Sakamoto, Mitsuhiro Kato, Takayoshi Koike, Yukitoshi Takahashi, Koichi Tanda, Yuki Hyodo, Rachel S. Honjo, Debora Romeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock-Hock Ngu, Ch'ng G. Siew, Keng W. Teik, Manami Akasaka, Hiroshi Doi, Fumiaki Tanaka, Tomohide Goto, Long Guo, Shiro Ikegawa, Kazuhiro Haginoya, Muzhirah Haniffa, Nozomi Hiraishi, Yoko Hiraki, Satoru Ikemoto, Atsuro Daida, Shin-ichiro Hamano, Masaki Miura, Akihiko Ishiyama, Osamu Kawano, Akane Kondo, Hiroshi Matsumoto, Nobuhiko Okamoto, Tohru Okanishi, Yukimi Oyoshi, Eri Takeshita, Toshifumi Suzuki, Yoshiyuki Ogawa, Hiroshi Handa, Yayoi Miyazono, Eriko Koshimizu, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Naomichi Matsumoto
Summary: This study optimized the detection of rare pathogenic CNVs using exome sequencing data by implementing batch-based analysis, sex-specific analysis, and filtering steps, leading to an improved performance in identifying clinically relevant CNVs, especially in patients with epilepsy.