scholarly journals Hypodontia and WNT10A mutation: a case report

2018 ◽  
Vol 65 (1) ◽  
pp. 32-36
Author(s):  
Marija Živković Sandić ◽  
Neda Stefanović ◽  
Branka Popović ◽  
Branislav Glišić
Keyword(s):  
Case Report ◽  
Cell Differentiation ◽  
Environmental Factors ◽  
Missense Mutation ◽  
Gene Function ◽  
Developmental Timing ◽  
Tooth Agenesis ◽  
Homozygous Mutation ◽  
Mutation Status ◽  
Environmental Interaction

Summary Tooth agenesis is common dentofacial malformation in humans. Its etiology is still not clear. Hypodontia has been regarded as a multifactorial condition influenced by gene function, environmental interaction and developmental timing. More than 300 genes have been related with patterning, morphogenesis and cell differentiation in teeth. According to data WNT10A gene is considered to have an important role in odontogonesis. The aim of this study was to show mutation status in WNT10A gene in a family with two members with diagnosis of hypodontia/oligodontia. In the reported family (father, mother, son, daughter) children were diagnosed with congenital tooth agenesis (son-2 teeth, daughter-11 teeth), while parents negated congenital absence of teeth. We identified a heterozygous missense mutation, c.682T>A (p.Phe228Ile) within the exon 3 of WNT10A in mother and father and the same homozygous mutation was detected in the same region of WNT10A gene in daughter and son. Observed differences in our study, from no symptoms to mild/severe hypodontia, could be the consequence of genetic influence of c.682T>A(p.Phe228Ile) mutation, but also the contribution of many environmental factors during odontogenesis.

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

scholarly journals Mixed adenoneuroendocrine tumour with squamous differentiation: a case report

2021 ◽  
Vol 11 (1) ◽  
pp. 1891-1894
Author(s):  
Irene Thomas ◽  
Divya Surendran ◽  
Joy Augustine
Keyword(s):  
Case Report ◽  
Cell Differentiation ◽  
Squamous Cell ◽  
Tumour Type ◽  
Squamous Differentiation ◽  
Biological Behaviour ◽  
Rare Tumour ◽  
Mixed Adenoneuroendocrine Carcinoma ◽  
Rare Neoplasm ◽  
Histopathological Features

Mixed adenoneuroendocrine carcinoma is a rare neoplasm with both epithelial and neuroendocrine components. To date, only a few cases of this neoplasm have been reported in the literature among which gastric mixed adenoneuroendocrine carcinoma is very rare. We are reporting a case of gastric mixed adenoneuroendocrine carcinoma with squamous cell differentiation. Histopathological features, biological behaviour and the treatment of this rare tumour type have been discussed briefly.

scholarly journals A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature

2020 ◽  
Vol Volume 13 ◽  
pp. 1613-1620
Author(s):  
Jie Chen ◽  
Shiying Luo ◽  
Ning Li ◽  
Huimin Li ◽  
Jinming Han ◽  
...  
Keyword(s):  
Case Report ◽  
Missense Mutation ◽  
Review Of Literature

scholarly journals Husband and wife with sarcoidosis: possible environmental factors involved

2013 ◽  
Vol 8 ◽  
Author(s):  
Ilaria Leli ◽  
Ivano Salimbene ◽  
Francesco Varone ◽  
Leonello Fuso ◽  
Salvatore Valente
Keyword(s):  
Case Report ◽  
Environmental Factors ◽  
Lymph Node Biopsy ◽  
Host Factors ◽  
Multisystem Disorder ◽  
Node Biopsy ◽  
Etiologic Agents ◽  
Unclear Etiology ◽  
Genetically Determined ◽  
Chronic Lymphadenitis

Sarcoidosis is a granulomatous multisystem disorder of unclear etiology that involves any organ, most commonly the lung and the lymph nodes. It is hypothesized that the disease derives from the interaction between single or multiple environmental factors and genetically determined host factors. Multiple potential etiologic agents for sarcoidosis have been proposed without any definitive demonstration of causality. We report the case of two patients, husband (57 years old) and wife (55 years old), both suffering from sarcoidosis. They underwent a lymph node biopsy by mediastinoscopy which showed a “granulomatous epithelioid giant cell non-necrotising chronic lymphadenitis”. They had lived up to 3 years ago in the country in a farm, in contact with organic dusts, animals such as dogs, chickens, rabbits, pigeons; now they have lived since about 3 years in an urban area where there are numerous chemical industries and stone quarries. The aim of this case report was to focus on environmental factors that might be related to the pathogenesis of the sarcoidosis.

scholarly journals Primary T cell lymphoma of the small intestine with spindle cell differentiation: a case report

2011 ◽  
Vol 19 (21) ◽  
pp. 2301
Author(s):  
Dong-Jie Yang ◽  
Zhe-Qiang Wei ◽  
Qing Mao ◽  
Qiu-Lan Xu ◽  
Xiao-Xing Feng
Keyword(s):  
Small Intestine ◽  
Case Report ◽  
Cell Differentiation ◽  
T Cell ◽  
Spindle Cell ◽  
Cell Lymphoma ◽  
T Cell Lymphoma

Acquired Aganglionic Megacolon in a Premature Infant: Report of a Case

PEDIATRICS ◽  
1975 ◽  
Vol 56 (3) ◽  
pp. 459-462
Author(s):  
Robert J. Touloukian ◽  
Raymond Duncan
Keyword(s):  
Case Report ◽  
Environmental Factors ◽  
Premature Infant ◽  
Ganglion Cell ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Genetic Factors ◽  
Male Infant ◽  
Distal Colon ◽  
Premature Newborn

Hirschsprung's disease is presumably caused by intrauterine environmental or genetic factors which prevent the migration and formation of the intramural ganglion cell (IMG) in the distal colon. While the IMG is known to be particularly sensitive to anoxemia and other postnatal environmental factors, its selective loss following such stress has not been substantiated in an unoperated patient. The following report of a stressed premature newborn with the clinical and radiographic features of Hirschsprung's disease clearly documents the histologic disappearance of the IMG from the distal colon. CASE REPORT D.J. (#88-65-29), a 1,525-gm male infant, was born to a healthy 22-year-old abortus 0, gravida 1, para 0 mother following an uncomplicated 30-week gestation, ending in a spontaneous uncomplicated delivery.

A Missense Mutation (Tyr88 to Cys) in the Platelet Membrane Glycoprotein Ibβ Gene Affects GPIb/IX Complex Expression

2001 ◽  
Vol 86 (11) ◽  
pp. 1249-1256 ◽  
Author(s):  
Yumi Kurokawa ◽  
Takehiko Kamijo ◽  
Shinji Kunishima ◽  
Dermot Kenny ◽  
Kiyoshi Kitano ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Dominant Negative ◽  
Dominant Negative Effect ◽  
Platelet Glycoprotein ◽  
Homozygous Mutation ◽  
Sequencing Analysis ◽  
Giant Platelets ◽  
Giant Platelet ◽  
Negative Effect ◽  
Dna Sequencing Analysis

SummaryThis study examined the molecular basis of a missense mutation of the platelet glycoprotein (GP) Ibβ gene in two families. In the propositus with a novel form of Bernard-Soulier syndrome (BSS) from Family I, only GPIbα was detectable in reduced amounts on platelet surfaces by flow cytometry. There were no GPIX or GPIbβ found by immunoblotting. DNA sequencing analysis showed a homozygous mutation in the GPIbβ gene which changed Tyr (TAC) to Cys (TGC) at residue 88. Her parents were heterozygous for Tyr88Cys in the GPIbβ gene. In transient transfection studies on 293T cells, both Tyr88Cys and Tyr88Ala mutations suppressed the expression of GPIb/IX complexes. In addition, Tyr88Cys GPIbβ mutation was found to exert a dominant negative effect on the GPIb expression.Five individuals from Family II, four of whom reported elsewhere as having giant platelet disorders with normal aggregation (BLOOD, 1997; 89: 2404) and one newly analyzed in this study, were heterozygous for Tyr88Cys in the GPIb gene. Microsatellite analysis of chromosome 22 showed a common haplotype in 8 of the individuals with Tyr88Cys mutations in Families I and II. Tyr88 in the GPIbβ gene plays a significant role in the GPIb/IX expression; the defect causes BSS in a homozygous form and possibly giant platelets in a heterozygous form.

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