Article
Cell Biology
Yuhan Sun, S. Ram Kumar, Chee Ern David Wong, Zhiyu Tian, Haipeng Bai, J. Gage Crump, Ruchi Bajpai, Ching Ling Lien
Summary: Congenital heart defects are common in CHARGE syndrome, a disease caused by mutations in the CHD7 gene. However, heart defects in zebrafish disease models of CHARGE have not been extensively studied. This study describes the occurrence of craniofacial abnormalities and heart defects in zebrafish chd7 mutants, which are enhanced in the maternal zygotic mutant background. The study also investigates the cellular mechanism of CHARGE syndrome using lineage tracing and reveals that cardiac neural crest cells are not affected in chd7 mutant fish. These chd7 fish mutants recapitulate some of the phenotypes seen in CHARGE patients and can be used for further studies on the role of CHD7.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Cell Biology
Laura A. Krueger, Ann C. Morris
Summary: This article provides an overview of the development of the vertebrate visual system and congenital disorders affecting the eye, focusing on CHARGE syndrome. The role of the CHD7 gene in ocular and retinal development is discussed, along with potential avenues for further research.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Genetics & Heredity
Xiangtao Wu, Liang Chen, Weihong Lu, Shaoru He, Xiaowen Li, Lingling Sun, Longjiang Zhang, Dejuan Wang, Ruigui Zhang, Yumei Liu, Yunxia Sun, Zhichun Feng, Victor Wei Zhang
Summary: This study analyzed the data of 12 patients with CHARGE syndrome from four hospitals in China and discovered five novel variants in the CHD7 gene, expanding the mutational spectrum of the gene and the phenotypes associated with CHARGE syndrome. The study also suggests a potential correlation between mutation sites and phenotypes.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Cesare Rossi, Sherin Ramadan, Cecilia Evangelisti, Simona Ferrari, Maria Accadia, Reha M. Toydemir, Emanuele Panza
Summary: In this study, a novel pathogenetic variant affecting splicing in the CHD7 gene, c.5607+17A > G, was identified. Through the construction of minigenes using exon trapping vectors, the molecular effect of the variant on CHD7 gene splicing was characterized. The findings were confirmed using cDNA synthesized from RNA extracted from patient lymphocytes, and the alteration of splicing was shown to be due to the generation of a recognition motif for the recruitment of a splicing effector.
FRONTIERS IN GENETICS
(2023)
Article
Ophthalmology
Laura A. Krueger, Jessica D. Bills, Zun Yi Lim, Jennifer M. Skidmore, Donna M. Martin, Ann C. Morris
Summary: This study characterized the expression pattern of CHD7 in the developing zebrafish and mouse retina and investigated its role in retinal development and photoreceptor outer segment morphogenesis.
EXPERIMENTAL EYE RESEARCH
(2023)
Article
Endocrinology & Metabolism
Ja Hye Kim, Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
Summary: This study investigated the clinical characteristics of endocrine dysfunction in patients with CHD7 mutations, revealing a diverse phenotypic spectrum with most patients exhibiting short stature and delayed puberty. Endocrine evaluation, particularly for growth and pubertal impairment, is essential for improving the quality of life for these patients.
ENDOCRINE CONNECTIONS
(2022)
Article
Biochemistry & Molecular Biology
Catherine Belanger, Tatiana Cardinal, Elizabeth Leduc, Robert S. Viger, Nicolas Pilon
Summary: This study provides further insights into the chromatin-mediated regulation of mammalian sex determination by investigating the roles of FAM172A and CHD7 proteins. The research shows that FAM172A and CHD7 are present in developing gonads during normal sex determination in mice and play important roles in transcriptional and splicing regulation. The findings identify FAM172A and CHD7 as new players in male sex determination and differentiation in mice and highlight the significance of chromatin-mediated regulatory mechanisms in these processes.
Article
Genetics & Heredity
Isabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, Parna Chattaraj, Ivan A. Lopez, Kyungreem Han, Keiji Honda, Carmen C. Brewer, John A. Butman, Robert J. Morell, Donna M. Martin, Andrew J. Griffith
Summary: Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is a common inner ear malformation in patients with hearing loss, and is associated with pathogenic variants in SLC26A4. However, in European-Caucasian populations, around 50% of EVA patients have no pathogenic alleles of SLC26A4. This study found that CHD7 variants can cause EVA and nonsyndromic hearing loss, and suggest that CHD7 should be included in DNA sequence analyses for EVA patients.
Article
Genetics & Heredity
Chiara De Luca, Simonetta Picone, Matteo Cassina, Simone Marziali, Silvia Morlino, Letizia Camerota, Gianpiero Tamburrini, Marco Castori, Piermichele Paolillo, Leonardo Salviati, Francesco Brancati
Summary: CHARGE syndrome is a rare genetic disorder with wide phenotypic variability. It is often caused by heterozygous variants in CHD7, and craniosynostosis is not commonly considered part of its clinical spectrum. The inclusion of CHD7-related CHARGE syndrome in the group of rare causes of syndromic craniosynostoses is proposed.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Biochemistry & Molecular Biology
Yanhong Shan, LingFang Yao, Linli Li, Xueping Gao, Jinghan Jiang
Summary: This study reported a novel variant in the CHD7 gene in a Chinese family with an abnormal fetus. Prenatal ultrasound screening and chromosomal microarray analysis were performed to determine the genetic cause of the fetus. The clinical phenotype of fetal heart abnormalities confirmed the diagnosis of CHARGE syndrome.
Article
Cardiac & Cardiovascular Systems
Athanasia Stathopoulou, Ping Wang, Charlotte Thellier, Robert G. Kelly, Deyou Zheng, Peter J. Scambler
Summary: This study investigates the role of CHD7 protein in cardiac development. The results show that CHD7 is necessary for the correct expression of genes involved in cardiac development, particularly in the second heart field. The study also reveals the interaction between CHD7 and ISL1, and their involvement in the regulation of cardiac enhancers during heart morphogenesis.
CARDIOVASCULAR RESEARCH
(2023)
Article
Genetics & Heredity
Tomoki T. Nomakuchi, Melinda Danowitz, Blythe Stewart, Jacqueline Leonard, Kosuke Izumi, Ian Krantz, Thomas F. F. Kolon, David Langdon, Cara Skraban, Jason Van Batavia, Elaine Zackai, Kai Jiao, Rebecca Linn, Caitlin Alexander, Mark Zaontz, Maria G. G. Vogiatzi, Louise C. C. Pyle
Summary: CHD7 disorder is a multiple congenital anomaly syndrome characterized by a highly variable phenotypic spectrum, including CHARGE syndrome. In this study, 14 individuals with known CHD7 variants were deeply phenotyped, and a range of reproductive and endocrine phenotypes were observed. Genital anomalies were more commonly noted in males, with micropenis and cryptorchidism being the most common presentations. Kallmann syndrome was commonly observed among adolescents and adults with CHD7 variants, and two individuals exhibited genital/gonadal atypia and one had Mullerian aplasia.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Clinical Neurology
Martin A. A. Lewis, Amy Juliano, Caroline Robson, Emma Clement, Robert Nash, Kaukab Rajput, Felice D'Arco
Summary: This study reviewed the genotypes and imaging appearances of cochleae in CHARGE patients, providing a detailed anatomical description and grading system of cochlear anomalies. The goal was to gain insight into the spectrum of cochlear anomalies in CHARGE syndrome and the role of the CHD7 gene in otic vesicle development.
Article
Biochemistry & Molecular Biology
Lingyu Shi, Zongyi Wang, Yujiao Li, Zheng Song, Wu Yin, Bing Hu
Summary: This study reveals the critical role of chd7 in oligodendrocyte migration and myelination in zebrafish, potentially associated with CHARGE syndrome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Bang Sun, Xi Wang, Jiangfeng Mao, Zhiyuan Zhao, Wei Zhang, Min Nie, Xueyan Wu
Summary: In this study, the genotype and phenotype characteristics of CHH patients with CHD7 rare variants were summarized. It was found that the addition of 19 novel CHD7 variants expanded the spectrum of variants and pathogenic or likely pathogenic RSVs were more likely to cause syndromic CHH.
FRONTIERS IN GENETICS
(2022)