scholarly journals Vestibular symptoms and associated gene mutations in non-syndromic hereditary deafness: a review of the literature and the database

2021 ◽  
Vol 80 (2) ◽  
pp. 63-74
Author(s):  
Yukihide Maeda ◽  
Tetsuo Ikezono
Keyword(s):  
Gene Mutations ◽  
Review Of The Literature ◽  
Hereditary Deafness ◽  
Vestibular Symptoms

Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature

Gene ◽  
2017 ◽  
Vol 628 ◽  
pp. 190-193 ◽  
Author(s):  
Abdelali Zrhidri ◽  
Imane Cherkaoui Jaouad ◽  
Jaber Lyahyai ◽  
Laure Raymond ◽  
Grégory Egéa ◽  
...  
Keyword(s):  
Case Report ◽  
Exome Sequencing ◽  
Gene Mutations ◽  
Review Of The Literature

Palatoplasty for the Patient With Campomelic Dysplasia—Report of a Case and Review of the Literature

2021 ◽  
pp. 105566562199265
Author(s):  
Kaya Narimatsu ◽  
Akihiko Iida ◽  
Takanori Kobayashi
Keyword(s):  
Respiratory Distress ◽  
Gene Mutations ◽  
Optimal Timing ◽  
Review Of The Literature ◽  
Campomelic Dysplasia ◽  
Nasal Bridge ◽  
Flat Nasal Bridge ◽  
Surgical Methods ◽  
Skeletal Disorder ◽  
Respiratory Conditions

Campomelic dysplasia (CMPD) is a skeletal disorder resulting from SOX9 gene mutations. Palatoplasty is rare due to a high lethality rate in infants from respiratory distress. Our patient had characteristic symptoms of CMPD, including short bowed limbs, macrocephaly, low-set ears, short palpebral fissures, hypertelorism, a flat nasal bridge, a long philtrum, micrognathia, and a cleft palate. We performed a Furlow palatoplasty when the patient was 2 years 9 months of age, after respiratory conditions had stabilized. We reviewed the literature of CMPD cases that underwent palatoplasty and discussed the optimal timing and surgical methods.

scholarly journals The use of regorafenib in patients with disseminated gastrointestinal stromal tumours. A review of the literature. A clinical case

2018 ◽  
pp. 12-16
Author(s):  
D. A. Filonenko ◽  
S. V. Petukhova ◽  
E. I. Khatkova ◽  
K. A. Vorontsova ◽  
E. I. Chichikov ◽  
...  
Keyword(s):  
Clinical Case ◽  
Kinase Inhibitors ◽  
Antitumour Activity ◽  
Gene Mutations ◽  
Review Of The Literature ◽  
Gastrointestinal Stromal Tumours ◽  
Everyday Clinical Practice ◽  
Secondary Resistance ◽  
Disseminated Disease ◽  
New Mutations

The survival of patients even with disseminated disease reached 7–8 years after introduction of imatinib and sunitinib for the treatment of gastrointestinal stromal tumours (GIST) into everyday clinical practice. These drugs efficacy is largely determined by the presence and any mutations of C-KIT and PDGFR genes. It was established that new mutations appear in most tumours against the background of tyrosine kinase inhibitors therapy, which causes the development of secondary resistance and the progression of the disease in most cases. The search for opportunities to overcome the newly developed or initially existing resistance caused by different gene mutations continues to be of vital importance. One of such drugs is regorafenib, which has demonstrated antitumour activity against progression on imatinib and/or sunitinib. The paper reviews the studies of the efficacy of regoraphanib in patients with disseminated GIST, taking into account the presence and any mutations of C-KIT and PDGFR genes, and presents a description of their own clinical case of prolonged use of the drug in a patient who have received earlier both imatinib and sunitinib.

Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes

2018 ◽  
Vol 97 (12) ◽  
pp. 1306-1316 ◽  
Author(s):  
B.P. Fournier ◽  
M.H. Bruneau ◽  
S. Toupenay ◽  
S. Kerner ◽  
A. Berdal ◽  
...  
Keyword(s):  
Systematic Review ◽  
Clinical Phenotype ◽  
Meta Analysis ◽  
Third Molar ◽  
Gene Mutations ◽  
Review Of The Literature ◽  
Missing Teeth ◽  
Causative Gene ◽  
Third Molar Agenesis ◽  
Eda Gene

The most common outcome of defective dental morphogenesis in human patients is dental agenesis (absence of teeth). This may affect either the primary or permanent dentition and can range from 5 or fewer missing teeth (hypodontia), 6 or more (oligodontia), to complete absence of teeth (anodontia). Both isolated and syndromic dental agenesis have been reported to be associated with a large number of mutated genes. The aim of this review was to analyze the dental phenotypes of syndromic and nonsyndromic dental agenesis linked to gene mutations. A systematic review of the literature focusing on genes ( MSX1, PAX9, AXIN2, PITX2, WNT10A, NEMO, EDA, EDAR, EDARADD, GREMLIN2, LTBP3, LRP6, and SMOC2) known to be involved in dental agenesis was performed and included 101 articles. A meta-analysis was performed using the dental phenotypes of 522 patients. The total number and type of missing teeth were analyzed for each mutated gene. The percentages of missing teeth for each gene were compared to determine correlations between genotypes and phenotypes. Third molar agenesis was included in the clinical phenotype assessment. The findings show that isolated dental agenesis exists as part of a spectrum of syndromes for all the identified genes except PAX9 and that the pattern of dental agenesis can be useful in clinical diagnosis to identify (or narrow) the causative gene mutations. While third molar agenesis was the most frequent type of dental agenesis, affecting 70% of patients, it was described in only 30% of patients with EDA gene mutations. This study shows that the pattern of dental agenesis gives information about the mutated gene and could guide molecular diagnosis for geneticists.

Incidence of FLT3 and nucleophosmin gene mutations in childhood acute myeloid leukemia: Serbian experience and the review of the literature

2009 ◽  
Vol 27 (3) ◽  
pp. 640-645 ◽  
Author(s):  
Nada Krstovski ◽  
Natasa Tosic ◽  
Dragana Janic ◽  
Lidija Dokmanovic ◽  
Milos Kuzmanovic ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Gene Mutations ◽  
Review Of The Literature ◽  
Childhood Acute Myeloid Leukemia ◽  
Acute Myeloid

scholarly journals Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome

2017 ◽  
Vol 4 ◽  
pp. 2329048X1770679 ◽  
Author(s):  
Maria P. Gontika ◽  
Christopher Konialis ◽  
Constantine Pangalos ◽  
Antigone Papavasiliou
Keyword(s):  
Sodium Channel ◽  
Novel Mutation ◽  
Gene Mutations ◽  
Aminobutyric Acid ◽  
Dravet Syndrome ◽  
Review Of The Literature ◽  
Subunit Gene ◽  
Novel Mutations ◽  
Whole Exome ◽  
Α1 Subunit

In the light of modern molecular technologies, the understanding of the complexity of the numerous genotype–phenotype correlations regarding Dravet syndrome is mandatory. Motivated by 2 patients, whose whole-exome sequencing revealed novel mutations that exemplify the phenotypic and genetic heterogeneities associated with typical and atypical Dravet syndrome presentations, the authors discuss the existence of a broader spectrum of Dravet syndrome. The first patient is a 4-year-old boy with fairly typical Dravet syndrome and a novel sodium channel α1 subunit gene mutation of high-predicted combined pathogenicity likelihood. The second patient is a 15-year-old boy with some atypical features of Dravet syndrome, harboring a novel mutation of the γ-aminobutyric acid receptor α1 subunit gene, whose role in this syndrome pathogenesis has recently been highlighted. A brief review of the literature reveals that none of the current diagnostic criteria is thoroughly predictive of the disease, and phenotypic discrepancies are common among patients carrying atypical Dravet syndrome mutations. The authors conclude that the discussion of a Dravet syndrome spectrum is relevant.

GJB2 gene mutations causing familial hereditary deafness in Turkey

2003 ◽  
Vol 67 (12) ◽  
pp. 1331-1335 ◽  
Author(s):  
Yıldırım A Bayazıt ◽  
Benjamin B Cable ◽  
Osman Cataloluk ◽  
Cengiz Kara ◽  
Parker Chamberlin ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Gjb2 Gene ◽  
Hereditary Deafness

NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence

Rheumatology ◽  
2020 ◽  
Vol 59 (11) ◽  
pp. 3129-3136
Author(s):  
Flavia Del Porto ◽  
Noemi Cifani ◽  
Maria Proietta ◽  
Elena Verrecchia ◽  
Roberta Di Rosa ◽  
...  
Keyword(s):  
Healthy Subjects ◽  
Autosomal Dominant ◽  
Inflammatory Diseases ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Recurrent Fever ◽  
Review Of The Literature ◽  
Immune Deficiencies ◽  
History Of ◽  
Dominant Condition

Abstract Systemic auto-inflammatory diseases (SAID) are a group of rare inherited conditions characterized by a dysregulation of the immune system and associated with recurrent episodes of fever and systemic inflammation. Patients with NLRP12 variants develop a rare autosomal dominant condition known as familial cold-induced autoinflammatory syndrome (FCAS2, OMIM #611762) that has been related to several different clinical manifestations including autoimmunity and immune deficiencies. In past years, several new variants have been described; however, their clinical relevance is sometimes uncertain, especially when they have been detected in healthy subjects. To our knowledge 61 patients with NLRP12 variants have been reported so far in the literature. Here we report the case of a 33-year-old woman with a history of recurrent fever and symmetric and additive poly-arthritis, fulfilling diagnostic criteria for RA, who was found to harbour two variants in the NLRP12 gene (OMIM *609648) and provide a review of the literature on similar cases.

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