scholarly journals Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient

2020 ◽  
Vol 4 (1) ◽  
pp. 51-54
Author(s):  
Zhou Yang ◽  
Zhan Qi ◽  
Zhe Xu ◽  
Wei Li ◽  
Lin Ma
Keyword(s):  
Chinese Patient ◽  
Novel Variant ◽  
Congenital Ichthyosiform Erythroderma

scholarly journals Cochlear implantation in a Chinese patient with a novel frameshift variant in POU3F4 gene and incomplete partition type III: a case report

2022 ◽  
Vol 50 (1) ◽  
pp. 030006052110662
Author(s):  
Lanye Hu ◽  
Jie Chen ◽  
Ruen Yao ◽  
Yuan Xin ◽  
Xuhua Fang ◽  
...  
Keyword(s):  
Cochlear Implantation ◽  
Chinese Patient ◽  
Csf Leak ◽  
Insertion Mutation ◽  
Specific Domain ◽  
Type Iii ◽  
Biological Parents ◽  
Novel Variant ◽  
Incomplete Partition ◽  
The Right

Variations in the POU Class 3 Homeobox 4 ( POU3F4) gene are associated with X-linked mixed deafness. Here, the identification of a novel variant of POU3F4 in a male paediatric patient (the proband) with incomplete partition type III (IP-III) hearing impairment, is described. Clinical data were collected from the proband and his biological parents. Whole exome sequencing of the proband revealed a novel frameshift insertion mutation in POU3F4 (c.717_718ins GTGCCTTGCAG : p.Leu240Valfs*5) in a hemizygous state. This variant likely truncates the protein within the POU-specific domain, and the proband’s biological mother was found to be a carrier of this variant. After excluding all contraindications, the proband underwent cochlear implantation in the right ear in June 2020. Cerebrospinal fluid (CSF) gushing was observed during surgery, but there were no postoperative complications, such as CSF leak, meningitis, or facial nerve stimulation. A novel pathogenic frameshift variant of POU3F4 was identified, enriching the known mutation spectrum of POU3F4. Effective perioperative prevention and response measures should be taken to reduce the incidence of CSF gushing and meningitis in patients receiving IP-III cochlear implantation.

scholarly journals Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jian-Dong Chen ◽  
Wei-Dong Liao ◽  
Ling-Ying Wen ◽  
Rong-Hua Zhong
Keyword(s):  
Genetic Variants ◽  
Autosomal Recessive ◽  
Male Infant ◽  
Chinese Patient ◽  
Multisystem Disorder ◽  
Aberrant Splicing ◽  
Case Presentation ◽  
First Case ◽  
Novel Variant ◽  
Retinal Pigmentation

Abstract Background Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2. Case presentation Here, we describe the first Chinese patient with a novel variant in ERCC2. A male infant, who was born to a healthy non-consanguineous couple, exhibited brittle hair, hair loss ichthyosis, eczema, retinal pigmentation and hypospadias. He carried a novel heterozygous ERCC2 variant. The maternal variant (c.2191-18_2213del) is a previous described genomic deletion that affects the splicing of intron 22. The paternal variant (c.1666-1G > A), that occurs in the splice site of intron 17 and likely alters ERCC2 gene function through aberrant splicing, has not been reported previously. Conclusions Our case reported a novel pathogenic variant in ERCC2, which expanded the known genetic variants associated with TTD.

Discovery of a Novel Variant of OCT4, OCT4B3

2016 ◽  
Vol 2 (4) ◽  
pp. 32 ◽  
Author(s):  
Seyed Javad Mowla ◽  
Ensieh Poursani ◽  
Majid Mehravar ◽  
James E. Trosko
Keyword(s):  
Novel Variant

An audit and insights from clinical exome sequencing in psychiatry: genotype-phenotype correlation

2020 ◽  
Author(s):  
Jayant Mahadevan ◽  
Reeteka Sud ◽  
Ravi Kumar Nadella ◽  
Vani P ◽  
Anand G Subramaniam ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Psychiatric Symptoms ◽  
Pathogenic Variant ◽  
Clinical Exome Sequencing ◽  
Mapt Gene ◽  
Nf1 Gene ◽  
Novel Variant ◽  
History Of ◽  
Atypical Presentations ◽  
Minor Physical Anomalies

BACKGROUND:Psychiatric syndromes have polymorphic symptomatology, and are known to be heritable. Psychiatric symptoms (and even syndromes) often occur as part of the clinical presentation in rare Mendelian syndromes. Clinical exome sequencing reports may help with refining diagnosis and influence treatment decisions, in addition to providing a window into the biology of brain and behaviour. We describe a clinical audit of 12 individuals who sought treatment at our hospital, and for whom targeted sequencing was ordered. Three cases are discussed in detail to demonstrate correlations between genotype and phenotype in the clinic.METHODS:Targeted Next-Generation Sequencing (NGS) was done using Clinical Exome Panel (TruSight One, Illumina) covering coding exons and flanking intronic sequences of 4811 genes associated with known inherited diseases. Variants detected were classified according to the American College for Medical Genetics (ACMG) recommendation for standards of interpretation and reporting of sequence variations.RESULTS:Ten out of twelve cases had at least one pathogenic variant. In one of these cases, we detected a known pathogenic variant in MAPT gene in a suspected FTD case, which helped us to confirm the diagnosis. In another case, we detected a novel variant predicted to be deleterious in NF1 gene. Identification of this mutation suggested a change in treatment for the patient, that was of benefit. The same patient also harboured a novel variant in the TRIO gene. This gene may be involved in biological processes that underlie the patient’s psychiatric illness.CONCLUSIONS:The cases discussed here exemplify different scenarios under which targeted exome sequencing can find meaningful application in the clinic: confirming diagnosis (MAPT variant), or modifying treatment (NF1). We suggest that clinical exome sequencing can be a helpful addition to a clinician’s toolkit when there are expediting factors to consider— such as early-onset, strong family history of mental illness, complex/atypical presentations and minor physical anomalies or neurocutaneous markers.

A Novel Variant of the Minimizing Re-Transmissions Technique for Wired Networks

2016 ◽  
Author(s):  
Nguyen Xuan Tien ◽  
◽  
Semog Kim ◽  
Jong Myung Rhee ◽  
◽  
...  
Keyword(s):  
Wired Networks ◽  
Novel Variant

Congenital Ichthyosiform Erythroderma: Particulate Staining Pattern of TGK

1999 ◽  
Vol 26 (12) ◽  
pp. 791-796
Author(s):  
Ken Hashimoto ◽  
Kazuaki Tanaka ◽  
Indira Misra ◽  
Tor Shwayder ◽  
Ali Moiin
Keyword(s):  
Staining Pattern ◽  
Congenital Ichthyosiform Erythroderma

CLIPPERS syndrome: A case report in a Chinese patient with juxtacortical lesions

2021 ◽  
Vol 50 ◽  
pp. 102853
Author(s):  
Haiqiang Jin ◽  
Yuhan Gao ◽  
Qianshuo Lu ◽  
Ran Liu ◽  
Qunyan Li ◽  
...  
Keyword(s):  
Case Report ◽  
Chinese Patient
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