scholarly journals Microcephaly-capillary malformation syndrome: the newly reported cases

2020 ◽  
pp. 31-37
Author(s):  
OA Shchagina ◽  
NA Semenova ◽  
LA Bessonova ◽  
EA Larshina ◽  
NS Beskorovainiy ◽  
...  
Keyword(s):  
Biochemical Analysis ◽  
De Novo ◽  
Genetic Disorders ◽  
Rflp Analysis ◽  
Pedigree Analysis ◽  
Gene Variants ◽  
Malformation Syndrome ◽  
Capillary Malformation ◽  
Galt Gene ◽  
Autosomal Recessive Manner

Microcephaly-capillary malformation syndrome (MICCAP: OMIM 614261) is a severe monogenic disorder inherited in an autosomal recessive manner caused by mutations in the STAMBP gene. There are less than 20 published cases of the syndrome to date. The paper reports three new cases of rare MICCAP syndrome. The cause of the disorder was confirmed in three affected individuals from two unrelated families by pedigree analysis, biochemical analysis, RFLP analysis and automated Sanger sequencing. The two brothers were homozygous for the potentially pathogenic STAMBP gene variant c.188A>G (p.Tyr63Cys). Clinical phenotype of the girl from the second family resulted from the combination of two genetic disorders: galactosemia caused by the compound heterozygosity for the pathogenic GALT gene variants (c.563A>G and c.855G>T), and MICCAP caused by the STAMBP gene variants (c.204-5c>g and с.668_669delCA), one of which originated de novo. The prevalence of microcephaly-capillary malformation syndrome in Russia is evaluated, it is one per 120,000 people (CI: 1/356 724–1/62 691). The carrier frequency is one per 173 people. The target STAMBP gene analysis makes the genetic confirmation of the MICCAP syndrome quicklier. When determining the tactics of diagnosis and therapy in each particular case, the possibility of combination of two rare genetic disorders in one patient should be considered.

scholarly journals Toll-like receptor-4 gene variations in Egyptian children with familial Mediterranean fever

2021 ◽  
Vol 48 (1) ◽  
Author(s):  
Yomna Farag ◽  
Samia Salah ◽  
Hanan Tawfik ◽  
Mai Hamed ◽  
Huda Marzouk
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Severity ◽  
Gene Mutation ◽  
Rflp Analysis ◽  
Gene Variants ◽  
Gene Variant ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Egyptian Children ◽  
Mediterranean Fever

Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive disorder affecting people in the region of the Mediterranean Sea. It is usually associated with mutation in Mediterranean fever (MEFV) gene that encodes the pyrin protein, which affects the innate inflammatory response. Toll-like receptors (TLR) are a family of pattern recognition receptors that recognize pathogenic microbes and activate antimicrobial defense mechanisms. Toll-like receptor 4 (TLR-4) is concerned with recognition of gram-negative organisms. There is growing clinical evidence suggesting a role for expression of TLRs in the immune pathogenesis of FMF. Thus, the aim of the current study was to evaluate the presence of TLR-4 (p.Asp299Gly) and TLR-4 (p.Thr399Ile) gene variants in association with Egyptian children having FMF, furthermore, its effect on disease course and severity. Results Seventy Egyptian children diagnosed as having FMF, together with 50 age and gender-matched controls were enrolled in the study. The TLR-4 (p.Asp299Gly) and (Thr399Ile) gene variants were determined by PCR-RFLP analysis for all studied patients and controls. TLR-4 p.Asp299Gly gene variant was detected in 1 (1.4%) of the patients and p.Thr399Ile gene variant was detected in 2 (2%). None of the controls had any of the two tested gene variants. All found variations were heterozygous. We could not find a statistically significant association with disease severity in cases with or without TLR-4 gene variants (P = 0.568). Patients with M694V gene mutation showed a higher disease severity (P = 0.035). Conclusion TLR-4 (p.Asp299Gly) and (p.Thr399Ile) gene variants were not found to have a link with the occurrence, the clinical picture of FMF, its severity, and response to colchicine treatment in Egyptian children. M694V gene mutation seems to be associated with higher disease severity. Further larger studies are needed to verify these results.

scholarly journals A Novel Heterozygous Missense Variant in YWHAG Gene Cause Early-Onset Epilepsy in a Chinese Family

2020 ◽  
Author(s):  
Zhi Yi ◽  
Zhenfeng Song ◽  
Jiao Xue ◽  
Chengqing Yang ◽  
Fei Li ◽  
...  
Keyword(s):  
Early Onset ◽  
Seizure Control ◽  
De Novo ◽  
Missense Variant ◽  
Epileptic Encephalopathy ◽  
Chinese Family ◽  
Gene Variants ◽  
Case Presentation ◽  
Epileptic Encephalopathies ◽  
Refractory Seizures

Abstract Background: Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of severe disorders which are characterized by early-onset, refractory seizures and developmental slowing or regression. Genetic variations are significant causes for them. De novo variants in an increasing number of candidate genes have been found to be causal. YWHAG gene variants have been reported to cause developmental and epileptic encephalopathy 56 (DEE56). Case presentation: Here, we report a novel heterozygous missense variant c.170G>A (p.R57H) in YWHAG gene cause early-onset epilepsy in a Chinese family. Both the proband and his mother exhibit early onset seizures, intellectual disability, developmental delay. While the proband achieve seizure control with sodium valproate, his mother's seizures were not well controlled. Conclusions: Our report further confirming the haploinsufficiency of YWHAG results in developmental and epileptic encephalopathies.

Capillary malformation–arteriovenous malformation syndrome: Identification of a family with a novel mutation

2012 ◽  
Vol 67 (6) ◽  
pp. e287-e289 ◽  
Author(s):  
Lynn M. Boyden ◽  
Charisse M. Orme ◽  
Richard J. Antaya ◽  
Keith A. Choate ◽  
Brett A. King
Keyword(s):  
Arteriovenous Malformation ◽  
Novel Mutation ◽  
Malformation Syndrome ◽  
Capillary Malformation

Fluorescent phospholipids preferentially accumulate in sub-tegumental cells of schistosomula of Schistosoma mansoni

1992 ◽  
Vol 103 (3) ◽  
pp. 823-830 ◽  
Author(s):  
S.T. Furlong ◽  
K.S. Thibault ◽  
R.A. Rogers
Keyword(s):  
Cellular Network ◽  
Biochemical Analysis ◽  
Phosphatidyl Ethanolamine ◽  
De Novo ◽  
Cell Types ◽  
Host Immunity ◽  
Epifluorescence Microscopy ◽  
Specific Cell ◽  
Back Exchange ◽  
Intact Molecule

Schistosomes do not make sterols or fatty acids de novo and thus require host lipids for survival. The acquisition of host lipids may also be an important factor in the schistosome's defense from host immunity; however, little is known about the regulation of this process. Here we have examined binding of radiolabeled and fluorescently labeled liposomes to schistosomula, and followed incorporation of fluorescent phospholipids into the worm by both morphological and biochemical methods. Saturable binding of radiolabeled phosphatidylcholine containing liposomes was observed and epifluorescence microscopy showed binding of C6-NBD-phosphatidylcholine (C6-NBD-PC), C12-NBD-phosphatidylcholine (C12-NBD-PC) and C6-NBD-phosphatidyl-ethanolamine (C6-NBD-PE) containing liposomes on the surface of the parasite. Following back-exchange with unlabeled liposomes, NBD-PC and NBD-PE were observed to be preferentially incorporated into specific cell types within the worm. Furthermore, cells which had accumulated the fluorescent lipid formed an interconnecting cellular network immediately below the tegument, identified as cytons. By contrast, fluorescein-PE was found only on the surface of the parasite and in the gut but not in the cytons. Biochemical analysis demonstrated that > 90% of the C6-NBD-PC and C12-NBD-PC remained as the intact molecule after a one hour incubation with the parasite, but that greater than 70% of the NBD-PE was converted to other lipids. These studies demonstrate that incorporation of phospholipid analogs into schistosomula can be followed morphologically and biochemically. As there was little localization of NBD-PE or NBD-PC in the gut, these analogs must be assimilated by crossing the tegument.(ABSTRACT TRUNCATED AT 250 WORDS)

scholarly journals Capillary Malformation–Arteriovenous Malformation Syndrome

2019 ◽  
Vol 155 (6) ◽  
pp. 733 ◽  
Author(s):  
Christopher D. Sibley ◽  
Michele L. Ramien
Keyword(s):  
Arteriovenous Malformation ◽  
Malformation Syndrome ◽  
Capillary Malformation

Capillary malformation−arteriovenous malformation syndrome: a multicentre study

2020 ◽  
Author(s):  
M. Valdivielso‐Ramos ◽  
A. Martin‐Santiago ◽  
J. M. Azaña ◽  
A. Hernández‐Nuñez ◽  
A. Vera ◽  
...  
Keyword(s):  
Multicentre Study ◽  
Arteriovenous Malformation ◽  
Malformation Syndrome ◽  
Capillary Malformation

A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases

2016 ◽  
Vol 33 (5) ◽  
pp. e337-e341 ◽  
Author(s):  
Claudine Gandon ◽  
Bertille Bonniaud ◽  
Evelyne Collet ◽  
Sophie Dalac ◽  
Géraldine Jeudy ◽  
...  
Keyword(s):  
Arteriovenous Malformation ◽  
Malformation Syndrome ◽  
Capillary Malformation ◽  
Syndrome Report

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

2018 ◽  
Vol 63 (9) ◽  
pp. 957-963 ◽  
Author(s):  
Ikumi Hori ◽  
Fuyuki Miya ◽  
Yutaka Negishi ◽  
Ayako Hattori ◽  
Naoki Ando ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Binding Motif ◽  
Malformation Syndrome ◽  
Homozygous Missense Mutation ◽  
Capillary Malformation

Neurocutaneous syndromes

2018 ◽  
Author(s):  
Nerissa Jordan
Keyword(s):  
Early Childhood ◽  
De Novo ◽  
Genetic Disorders ◽  
Specific Treatment ◽  
Diverse Group ◽  
De Novo Mutations ◽  
Cutaneous Manifestations ◽  
Distinct Phenotype ◽  
Neurocutaneous Syndromes ◽  
Age Range

The neurocutaneous syndromes comprise a diverse group of rare genetic disorders with both neurological and cutaneous manifestations. Each syndrome has a distinct phenotype. Symptoms are variable and depend on the syndrome. Neurocutaneous syndromes often present in childhood or adolescence; for example, tuberous sclerosis typically presents in early childhood. The age range of presentation is broad, depending on the specific condition and severity of expression. The majority are autosomally inherited conditions. De novo mutations can occur. Most neurocutaneous syndromes do not have a specific treatment, and management is predominantly supportive and aimed at symptom reduction and appropriate monitoring. This chapter discusses neurocutaneous syndromes, including their symptoms, demographics, etiologies, natural history, complications, diagnosis, prognosis, and treatment.

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