scholarly journals A novel mutation affecting the COPA gene: The first report of COPA syndrome in Brazil

2021 ◽  
Author(s):  
Teresa Cristina Martins Vicente Robazzi ◽  
Leonardo Oliveira Mendonça ◽  
Regina Terse Ramos
Keyword(s):  
Novel Mutation ◽  
First Report ◽  
Copa Gene ◽  
Copa Syndrome

scholarly journals Unveiling the 46,XY disorder of sex development patients family with a novel mutation in the GATA4 gene

2021 ◽  
Author(s):  
Liwei Li ◽  
Hui Yang ◽  
Junhong Zhang ◽  
Huijing Lv ◽  
Qing Li ◽  
...  
Keyword(s):  
Karyotype Analysis ◽  
Novel Mutation ◽  
Binding Protein ◽  
Gonadal Development ◽  
Heterozygous Mutation ◽  
Disorder Of Sex Development ◽  
First Report ◽  
Sex Development ◽  
Physical Examinations

Abstract Background GATA-binding protein 4 (GATA4) is the critical regulator in gonadal development and its mutation has been reported related with 46,XY disorder of sex development (DSD). Here, we found the two Chinese cases with 46,XY DSD carried the GATA4 mutation. Physical examinations, B-ultrasound and Karyotype analysis were performed and confirmed the two patients with 46,XY DSD. Results Sequencing were performed and the heterozygous mutation p.Gly375Arg in GATA4 gene was identified in the 2 cases with 46,XY DSD. Their mother was identified carrying the p.Gly375Arg mutation in GATA4 protein. However, their father and litter sister without 46,XY DSD didn’t be found carrying the p.Gly375Arg mutation in GATA4 gene. Conclusion This is the first report that the case with 46,XY DSD carried the mutation Gly375Arg in the GATA4 gene. Our

scholarly journals A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review

2021 ◽  
Vol 9 ◽  
Author(s):  
Jingxia Zeng ◽  
Jing Hao ◽  
Wei Zhou ◽  
Zhaoqun Zhou ◽  
Hongjun Miao
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Retrograde Transport ◽  
Immunosuppressive Drugs ◽  
Kidney Disorder ◽  
Autosomal Dominant Disorder ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Copa Syndrome

COPA syndrome is a rare autosomal dominant disorder with auto-immune and auto-inflammatory abnormalities. This disease is caused by mutations of COPα, a protein that functions in the retrograde transport from the Golgi to the ER. Here we report the first COPA case of an 11-year-old boy with c.841C>T, p.R281W mutation. The arginine at position 281 was located in a highly evolutionary-conserved region. Immunosuppressive drugs and corticosteroids might not improve the long-term outcome of COPA patients. For patients with pulmonary disease, polyarthritis and/or kidney disorder, and suspected of COPA, genetic analysis should be conducted promptly for early diagnosis.

scholarly journals A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

2010 ◽  
Vol 5 (1) ◽  
Author(s):  
Mohammed Al-Owain ◽  
Sarar Mohamed ◽  
Namik Kaya ◽  
Ahmad Zagal ◽  
Gert Matthijs ◽  
...  
Keyword(s):  
Case Report ◽  
Dilated Cardiomyopathy ◽  
Novel Mutation ◽  
First Report

scholarly journals Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene

2021 ◽  
Vol 10 (5) ◽  
pp. 1369-1376
Author(s):  
Ben Kang ◽  
Su-Kyeong Hwang ◽  
Sujin Choi ◽  
Eun Soo Kim ◽  
Sang Yub Lee ◽  
...  
Keyword(s):  
Case Report ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Novel Mutation ◽  
Juvenile Polyposis ◽  
First Report ◽  
Smad4 Gene

A fossil Aspergillus from Eocene Dominican amber

1988 ◽  
Vol 62 (01) ◽  
pp. 141-143 ◽  
Author(s):  
Gerard M. Thomas ◽  
George O. Poinar
Keyword(s):  
Dominican Republic ◽  
Fossil Species ◽  
First Report ◽  
Dominican Amber ◽  
Eocene Amber

A sporulating Aspergillus is described from a piece of Eocene amber originating from the Dominican Republic. The Aspergillus most closely resembles a form of the white spored phase of Aspergillus janus Raper and Thom. This is the first report of a fossil species of Aspergillus.

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