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Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient

Overview of attention for article published in BMC Pediatrics, June 2018
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Title
Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient
Published in
BMC Pediatrics, June 2018
DOI 10.1186/s12887-018-1181-0
Pubmed ID
Authors

Yan-ping Xu, Li-ping Shi, Jiajun Zhu

Abstract

CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7, which has been estimated to occur in 1:10,000 births worldwide. It is a genetic disorder closely resembles other pattern of anomalies. Genetic testing should be pointed out as a useful method for clinical diagnosis. A female infant was the second child born to a 33-year-old, gravida 3, para 2 mother. The infant was born at 37 + 4 weeks of gestation with a birth weight of 2440 g (- 1.1 S.D.). Clinical examination showed atypical CHARGE syndrome, with choanal atresia, a heart defect, and sensorineural deafness. Genomic DNA was extracted from peripheral venous blood sample using molecular biological technique. We used the Illumina TruSigt One sequencing panel on the MiSeq next- generation sequencing (NGS) platform for mutation screening and found a novel frameshift mutation in chromodomain helicase DNA binding protein 7 (CHD7; c.4656dupT). This mutation results in a new reading frame ending in p.(Ile1553fs). At the first month of age, the patient had a posterior nostril plasty operation by nasal endoscope. At the second month of age, she had patent ductus arteriosus ligation surgery. At the 4th month of age, she was discharged from the hospital. Our findings further reveal that patients should not be rejected for CHD7 mutational analysis even if they do not fulfill CHARGE syndrome Verloes criteria.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 6 32%
Unspecified 2 11%
Student > Master 2 11%
Professor 1 5%
Student > Doctoral Student 1 5%
Other 1 5%
Unknown 6 32%
Readers by discipline Count As %
Medicine and Dentistry 6 32%
Nursing and Health Professions 4 21%
Unspecified 2 11%
Economics, Econometrics and Finance 1 5%
Biochemistry, Genetics and Molecular Biology 1 5%
Other 0 0%
Unknown 5 26%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 June 2018.
All research outputs
#20,523,725
of 23,092,602 outputs
Outputs from BMC Pediatrics
#2,644
of 3,051 outputs
Outputs of similar age
#288,468
of 329,072 outputs
Outputs of similar age from BMC Pediatrics
#78
of 84 outputs
Altmetric has tracked 23,092,602 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
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