Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

2019 ◽  
Vol 97 (5) ◽  
pp. 633-645 ◽  
Author(s):  
Laurence Duplomb ◽  
Julie Rivière ◽  
Gaëtan Jego ◽  
Romain Da Costa ◽  
Arlette Hammann ◽  
...  
Keyword(s):  
Cohen Syndrome ◽  
Serpin B1

Serpin B1 protects colonic epithelial cell via blockage of neutrophil elastase activity and its expression is enhanced in patients with ulcerative colitis

2012 ◽  
Vol 302 (10) ◽  
pp. G1163-G1170 ◽  
Author(s):  
Kazuhiko Uchiyama ◽  
Yuji Naito ◽  
Tomohisa Takagi ◽  
Katsura Mizushima ◽  
Yasuko Hirai ◽  
...  
Keyword(s):  
Ulcerative Colitis ◽  
Mrna Expression ◽  
Real Time ◽  
Neutrophil Elastase ◽  
Colonic Mucosa ◽  
Clinical Samples ◽  
Active Ulcerative Colitis ◽  
Inflammatory Infiltration ◽  
Serpin B1

Serpin B1 is a monocyte neutrophil elastase (NE) inhibitor and is one of the most efficient inhibitors of NE. In the present study, we investigated the role of serpin B1 in the pathogenesis of ulcerative colitis by using clinical samples and an experimental model. The colonic expression of serpin B1 was determined by real-time polymerase chain reaction (PCR), Western blot analysis, and immunohistological studies in both normal and inflamed mucosa from patients with ulcerative colitis. Serpin B1 mRNA expression was determined by real-time PCR in the mouse dextran sodium sulfate (DSS)-induced colitis model. Young adult mouse colonic epithelial (YAMC) cells were used to determine the role of serpin B1. Serpin B1 gene transfected YAMC cells were treated with H2O2 to measure cell viability. The expression of NE was determined in YAMC cells treated with H2O2. NE-silenced YAMC cells were also treated with H2O2 and then measured for viability. Upregulated expression of serpin B1 in colonic mucosa was confirmed from patients with active ulcerative colitis. Immunohistochemical studies showed that serpin B1 expression was localized not only in inflammatory infiltration cells but also in epithelial cells. Serpin B1 mRNA expression was also increased in colonic mucosa of mouse DSS-induced colitis. Serpin B1-transfected YAMC cells were resistant against the treatment of H2O2. H2O2 treatment significantly induced NE in YAMC cells, and NE-silenced YAMC cells were also resistant against the treatment of H2O2. These results suggest that serpin B1 may be a novel marker of active ulcerative colitis and may play an important role in the pathogenesis of inflammatory bowel disease.

scholarly journals Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Sha Zhao ◽  
Zhenqing Luo ◽  
Zhenghui Xiao ◽  
Liping Li ◽  
Rui Zhao ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Cohen Syndrome ◽  
The Family ◽  
Sporadic Cases

Abstract Background Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation A Chinese family with two offspring–patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. Conclusions This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS.

scholarly journals A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome

2019 ◽  
Vol 182 (3) ◽  
pp. 570-575 ◽  
Author(s):  
Katrin Koehler ◽  
Markus Schuelke ◽  
Anna K. Hell ◽  
Michael Schittkowski ◽  
Angela Huebner ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Cohen Syndrome ◽  
Homozygous Nonsense Mutation

Cohen syndrome: the clinical symptoms and stigmata at a young age

2008 ◽  
Vol 49 (5) ◽  
pp. 237-241 ◽  
Author(s):  
Jean-Pierre Fryns ◽  
Eric Legius ◽  
Koen Devriendt ◽  
Françoise Meire ◽  
Lieve Standaert ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Young Age ◽  
Cohen Syndrome

Cohen Syndrome

2010 ◽  
pp. 183-193 ◽  
Author(s):  
Kate Chandler ◽  
Jill Clayton-Smith
Keyword(s):  
Cohen Syndrome

Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family

2020 ◽  
Vol 42 (8) ◽  
pp. 587-593
Author(s):  
Jamil A. Hashmi ◽  
Fatima Fadhli ◽  
Ahmed Almatrafi ◽  
Sibtain Afzal ◽  
Khushnooda Ramzan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Homozygosity Mapping ◽  
Cohen Syndrome ◽  
Whole Exome ◽  
Saudi Family ◽  
Exact Diagnosis

Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report

2003 ◽  
Vol 25 (6) ◽  
pp. 446-449 ◽  
Author(s):  
Giangennaro Coppola ◽  
Rosario R Federico ◽  
Giuseppina Epifanio ◽  
Francesca Tagliente ◽  
Carmela Bravaccio
Keyword(s):  
Case Report ◽  
Slow Wave ◽  
Slow Wave Sleep ◽  
Cohen Syndrome

Clinical, MR Imaging and MR Spectroscopy Findings in Cohen Syndrome

2005 ◽  
Vol 18 (1) ◽  
pp. 82-86
Author(s):  
N. Bulakbasi ◽  
S. Ilkbahar ◽  
M. Kocaoglu
Keyword(s):  
Corpus Callosum ◽  
Mr Imaging ◽  
Mr Spectroscopy ◽  
Psychomotor Retardation ◽  
Facial Features ◽  
Imaging Findings ◽  
Cohen Syndrome ◽  
Pituitary Hyperplasia

We describe a 20-year-old, non-Finnish man with Cohen syndrome (MIM: 216550). Besides the essential clinical and MR imaging findings including non-progressive psychomotor retardation, motor clumsiness, microcephaly, typical facial features, retinochoroidal dystrophy, myopia and thick corpus callosum, he also had infertility, pituitary hyperplasia and low-lying tentorium. No diffusion changes were recorded. MR spectroscopy (40 and 270 ms TE) revealed normal spectra.

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