Clinical and genetic analysis in a Chinese family with familial tumoral calcinosis

Bone ◽  
2008 ◽  
Vol 43 ◽  
pp. S34-S35
Author(s):  
Lihao Sun ◽  
Xiaoyi Ding ◽  
Lin Zhao ◽  
Jianmin Liu ◽  
Guang Ning
Keyword(s):  
Genetic Analysis ◽  
Tumoral Calcinosis ◽  
Chinese Family

Genetic analysis of a Chinese family provides further evidence for linkage of familial cortical myoclonic tremor with epilepsy to 5p15.31-p15

2015 ◽  
Vol 63 (2) ◽  
pp. 215 ◽  
Author(s):  
Guohua Hu ◽  
Caixia Liu ◽  
Wei Sun ◽  
Qiuhui Chen ◽  
Jia Li
Keyword(s):  
Genetic Analysis ◽  
Chinese Family

scholarly journals Defective O-glycosylation of novel FGF23 mutations in a Chinese family with hyperphosphatemic familial tumoral calcinosis

Bone ◽  
2020 ◽  
Vol 137 ◽  
pp. 115401
Author(s):  
Chang Liu ◽  
Qianqian Pang ◽  
Yan Jiang ◽  
Yu Xia ◽  
Ligang Fang ◽  
...  
Keyword(s):  
Tumoral Calcinosis ◽  
Chinese Family ◽  
Hyperphosphatemic Familial Tumoral Calcinosis

Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations

2016 ◽  
Vol 44 (4) ◽  
Author(s):  
Ning Liu ◽  
Xiang-dong Kong ◽  
Quan-cheng Kan ◽  
Hui-rong Shi ◽  
Qing-hua Wu ◽  
...  
Keyword(s):  
Systematic Review ◽  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Aminobutyric Acid ◽  
Chinese Family ◽  
Succinic Semialdehyde ◽  
Review Of The Literature ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Ssadh Deficiency

AbstractSuccinic semialdehyde dehydrogenase (SSADH) deficiency is a neurometabolic disease in which the degradation of γ-aminobutyric acid (GABA) is impaired. The purpose of this study was to report two novelGenetic analysis ofTwo novel

scholarly journals Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report

2020 ◽  
Author(s):  
Dongjun Xing ◽  
Huaiyu Zhou ◽  
Rongguo Yu ◽  
Linni Wang ◽  
Liying Hu ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Analysis ◽  
Exome Sequencing ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Optical Coherence ◽  
Targeted Exome Sequencing ◽  
Usher Syndrome Type

Abstract Background: Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features.Case presentation: A 23-year-old man complained of a 10-year duration of nyctalopia and a 3-year decline in visual acuity of both eyes accompanied by congenital dysaudia. To clarify the diagnosis, the clinical symptoms were observed and analysed in combination with comprehensive ophthalmologic examinations as well as genetic analysis (targeted exome sequencing, TES). A typical clinical presentation of Usher syndrome of the fundus was found, including a waxy yellow-like disc, bone-spicule formations and retinal vessel stenosis. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) showed loss of the ellipsoid zone and a reduction in paracaval vessel density in both eyes. Genetic analysis identified a novel homozygous c.8483_8486del (p.Ser2828*) mutation in USH2A. The mutation resulted in premature termination of translation and caused the deletion of 19 fibronectin type 3 domains (FN3), transmembrane (TM) region and PDZ-binding motif domain, which play an important role in protein binding. After combining the clinical manifestations and genetic results, the patient was diagnosed with Usher syndrome type 2.Conclusion: We found a novel c.8483_8486del mutation in the USH2A gene through TES techniques. The results broaden the spectrum of mutations in Usher syndrome type 2 and suggest that a combination of clinical information and molecular diagnosis via TES could help Usher syndrome patients obtain a better diagnosis.

scholarly journals Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Kuanshu Li ◽  
Liu Yang ◽  
Ying Liu ◽  
Ding Lin
Keyword(s):  
Genetic Counseling ◽  
Genetic Analysis ◽  
Gene Mutation ◽  
Genomic Dna ◽  
Gene Mutations ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Homozygous Mutation ◽  
Specific Therapy ◽  
Rieger Syndrome

Purpose. To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings.Methods. Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were found.Results. Through the ophthalmologic examinations, 8 subjects were diagnosed as ARS and 1 subject was normal. A homozygous mutation c.1139_1141dupGCG(p.Gly380_Ala381insGly) and a heterozygous mutation c.1359_1361dupCGG(p.Gly456_Gln457insGly) in FOXC1 were identified in all subjects. The mutation (c.-10-30T>C) was identified in PITX2 in subjects III-1 and III-3.Conclusions.We found novel gene mutations in a Chinese family with ARS, which provides us with a better understanding of the gene mutation spectrum of ARS and the assistance for the genetic counseling and gene-specific therapy in the future.

Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families

2019 ◽  
Vol 32 (8) ◽  
pp. 915-920
Author(s):  
Mei Tik Leung ◽  
Jacqueline K.K. Sit ◽  
Hoi Ning Cheung ◽  
Yan Ping Iu ◽  
Winnie K.Y. Chan ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Failure To Thrive ◽  
Index Patient ◽  
Chinese Family ◽  
Molecular Testing ◽  
Carrier Status ◽  
Young Infants ◽  
Collecting Tubules

Abstract Nephrogenic diabetes insipidus (NDI) is a rare disorder of the renal collecting tubules, characterized by an inability to concentrate urine due to an impaired response to arginine vasopressin (AVP), resulting in dilute urine and polyuria. Causes of NDI are heterogeneous and diagnosing congenital NDI (cNDI) in young infants is clinically challenging, as typical symptoms are often unappreciated or inconspicuous. Instead, young infants may present with non-specific signs such as vomiting, poor feeding, failure to thrive, unexplained fevers, irritability, constipation or diarrhea. We report a 37-day-old infant who presented with polyuria and severe hypernatremic dehydration that was unresponsive to vasopressin. The patient was treated with amiloride, indomethacin and hydrochlorothiazide. Genetic analysis revealed a novel contiguous deletion involving the entire AVPR2 gene and the last exon of the adjacent ARHGAP4 gene. A study of the family confirmed the carrier status in the mother. This case illustrates the importance of molecular testing in confirming the diagnosis in the index patient, as well as in identifying asymptomatic at-risk female carriers so that appropriate genetic counselling can be given for reproductive planning. All pediatric patients with suspected cNDI should undergo genetic analysis for a definitive diagnosis.

Sign in / Sign up

Export Citation Format

Share Document