CHD7 Mutations and CHARGE Syndrome in Semicircular Canal Dysplasia

Green, Glenn E.; Huq, Farhan; Emery, Sarah B.; Mukherji, Suresh K.; Martin, Donna M.

doi:10.1097/mao.0000000000000260

Cited by 29 publications

(20 citation statements)

References 27 publications

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“…Patients who had a clinical diagnosis of CHARGE but had not undergone CHD7 testing were excluded. Additional eligible patients were identified from previously published data [Green et al, ]. A literature review was conducted using PubMed.…”

Section: Methodsmentioning

confidence: 99%

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

Hale

Niederriter

Green

et al. 2015

American J of Med Genetics Pt A

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128

145

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CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary anomalies, and Ear malformations, including deafness and vestibular disorders) is a genetic condition characterized by a specific and recognizable pattern of features. Heterozygous pathogenic variants in the chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome, and have been identified in 70–90% of individuals fulfilling clinical diagnostic criteria. Since 2004, when CHD7 was discovered as the causative gene for CHARGE syndrome, the phenotypic spectrum associated with pathogenic CHD7 variants has expanded. Predicted pathogenic CHD7 variants have been identified in individuals with isolated features of CHARGE including autism and hypogonadotropic hypogonadism. Here we present genotype and phenotype data from a cohort of 28 patients who were considered for a diagnosis of CHARGE syndrome, including one patient with atypical presentations and a pathogenic CHD7 variant. We also summarize published literature on pathogenic CHD7 variant positive individuals who have atypical clinical presentations. Lastly, we propose a revision to current clinical diagnostic criteria, including broadening of the major features associated with CHARGE syndrome and addition of pathogenic CHD7 variant status as a major criterion.

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Section: Methodsmentioning

confidence: 99%

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

Hale

Niederriter

Green

et al. 2015

American J of Med Genetics Pt A

Self Cite

128

145

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“…Двусторонняя атрезия хоан вызывает респираторный дистресс-синдром, требующий немедленной реанимации. Односторонняя атрезия хоан может оставаться не диагностированной до тех пор, пока у ребенка не проявится постоянная односторонняя ринорея [10,11,13]. В нашем наблюдении у мальчика в настоящее время атрезия хоан не установлена, периодическая ринорея связана с частыми простудными заболеваниями.…”

Section: Discussionunclassified

“…У мальчика выявлены характерная аномалия ушных раковин, глухота нейросенсорного типа, хроническая двусторонняя тугоухость IV степени, слева слуховая нейропатия. Отсутствие или гипоплазия полукружных каналов ухудшает равновесие, способствует задержке двигательной активности детей [2,11,12,16,17], что не диагностировано в описываемом клиническом случае.…”

Section: Discussionunclassified

“…К второстепенным диагностическим признакам CHARGE-синдрома относятся: гипоплазия гениталий (микропенис и крипторхизм у мальчиков, гипоплазия половых губ у девочек), задержка полового созревания, гипогонадотропный гипогонадизм (у 50-60% больных); умственная отсталость/задержка развития (у 100%); низкорослость с дефицитом гормона роста или без такового (у 70-80%); сердечнососудистые аномалии (тетрада Фалло, дефекты атриовентрикулярного канала, аномалии аортальной арки; у 75-85%); расщелина губы и/или неба (у 15-20%); трахеэзофагальная фистула (у 15-20%); характерный лицевой фенотип (квадратное лицо с широким выдающимся лбом, широкая переносица, широкий кончик носа; у 70-80%) [1,2,[8][9][10][11][12]. Описаны поражения других органов и систем: аномалии почек (дисгенезия/гипоплазия, подковообразная почка, гидронефроз, пузырно-мочеточниковый рефлюкс), аномалия DiGeorge (гипоплазия тимуса, околощитовидных желез), омфалоцеле, или пупочная грыжа, сколиоз, аномалии кистей рук (полифалангия, полидактилия, эктродактилия), деформация стоп [1,2,[8][9][10][11][12].…”

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CHARGE syndrome

Leviashvili

Савенкова

Gorkina

et al. 2020

Ross. vestn. perinatol. pediatr.

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The article provides literature data and description of the clinical case of CHARGE syndrome with an autosomal – dominant type of inheritance in a child of 3 years and 7 months. The name of the syndrome is formed by the first letters of the characteristic congenital malformations: “C” (coloboma) – optic disc coloboma, “H” (heart defects) – cardiovascular abnormalities, “A” (atresia of choanae) – atresia or stenosis of choan, “R” (retardation of growth and development) – growth deficit, developmental delay, “G” (genital anomalies) – genital anomalies, “E” (ear abnormalities and sensorineural hearing loss) – hearing organ abnormalities. A feature of the clinical case is the early diagnosis of CHARGE syndrome, manifested by bilateral optic disc coloboma; unilateral paresis of the facial nerve; congenital heart disease (open aortic duct); retardation of growth, psychomotor and psycho-speech development; cryptorchidism; bilateral anomaly of the outer ear (short, wide, absence of the lobe and external curl), sensorineural hearing loss; bilateral renal hypopalasia, chronic kidney disease.

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“…The CHD7 gene consists of 38 exons and only the first exon is non coding [ 8 ]. This gene is a member of ATP-dependent chromatin remodeling protein family [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

Bozkaya

Ataman

Randa

et al. 2015

Balkan Journal of Medical Genetics

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The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain helicase DNA-binding protein 7 (CHD7) gene. The CHD7 gene is located on chromosome 8q12.1, and up to now, there are more than 500 pathogenic mutations identified in the literature. We report two patients diagnosed with CHARGE syndrome with two novel mutations in the CHD7 gene: the first patient has double consecutive novel mutations in three adjacent codons, and the other has a novel insertion.

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CHD7 Mutations and CHARGE Syndrome in Semicircular Canal Dysplasia

Cited by 29 publications

References 27 publications

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

CHARGE syndrome

Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

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