scholarly journals Three cases of Carney complex in the children: clinical and molecular-genetic features of Carney complex in the children (the first description in Russia)

2012 ◽  
Vol 58 (5) ◽  
pp. 50-56 ◽  
Author(s):  
E M Orlova ◽  
M A Kareva ◽  
E Iu Zakharova ◽  
G A Poliakova ◽  
I V Poddubnyĭ ◽  
...  
Keyword(s):  
Adrenal Adenoma ◽  
Molecular Genetic ◽  
Carney Complex ◽  
Gene Encoding ◽  
First Case ◽  
Genetic Features ◽  
Dominant Condition ◽  
Carney Syndrome ◽  
Other Neoplasms ◽  
New Mutations

Carney complex is a rare autosomal dominant condition that manifests itself as a combination of lentiginosis, heart and skin myxomas, primary pigmented micronodular adrenocortical hyperplasia with ACTH-independent hypercorticism, calcifying Sertoli cell testicular tumours, schwannomas, thyroid and breast tumours, and other neoplasms. A total of 400 patients presenting with this pathology has thus far been described worldwide. 75% of the patients with Carney complex were found to have mutations in the gene encoding for the regulatory alpha-subunit of proteinkinase A (PRKARIA). The present paper presents three cases of Carney syndrome diagnosed in adolescents. Two new mutations in the PRKARIA gene were identified (c.1111_1112insC (pp.Q370fsX11) and c.1016T>A (p.339V>D)). One of the patients had adrenal adenoma. To the best of our knowledge, it is the first case of benign adrenal tumour greater than 2 cm in size in the patient with Carney complex.

scholarly journals Germline deletion and a somatic mutation of the PRKAR1A gene in a Carney complex-related pituitary adenoma

2015 ◽  
Vol 172 (1) ◽  
pp. K5-K10 ◽  
Author(s):  
T Iwata ◽  
T Tamanaha ◽  
R Koezuka ◽  
M Tochiya ◽  
H Makino ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Somatic Mutation ◽  
Copy Number ◽  
Large Deletion ◽  
Carney Complex ◽  
Regulatory Subunit ◽  
Allelic Loss ◽  
Dna Copy Number ◽  
Gene Encoding ◽  
First Case

ObjectiveThe objective was to assess involvement of loss of the PRKAR1A gene encoding a type 1α regulatory subunit of cAMP-dependent protein kinase A located on 17q24 in a Carney complex (CNC)-related pituitary adenoma.DesignWe investigated aberrations of the PRKAR1A gene in a CNC patient with a GH-producing pituitary adenoma, whose family has three other members with probable CNC.MethodsA gene mutation was identified by a standard DNA sequencing method based on PCR. DNA copy number was measured to evaluate allelic loss on 17q24 by quantitative PCR. The breakpoints of deletion were determined by cloning a rearranged region in the deleted allele.ResultsA PRKAR1A mutation of c.751_758del8 (p.S251LfsX16) was found in genomic DNA obtained from a pituitary adenoma, but not leukocytes from the patient. Reduced DNA copy number at loci including the PRKAR1A gene on 17q24 was detected in both the tumor and leukocytes, suggesting a deletion at the loci at the germline level. The deletion size was determined to be ∼0.5 Mb and this large deletion was also found in two other family members.ConclusionThis is the first case showing a CNC-related pituitary adenoma with the combination of somatic mutation and a large inherited deletion of the PRKAR1A gene. Biallelic inactivation of PRKAR1A appears to be necessary for the development of CNC-related pituitary adenoma.

scholarly journals Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in COL1A2

2021 ◽  
Vol 11 (6) ◽  
pp. 526
Author(s):  
Yejin Lee ◽  
Youn Jung Kim ◽  
Hong-Keun Hyun ◽  
Jae-Cheoun Lee ◽  
Zang Hee Lee ◽  
...  
Keyword(s):  
Collagen Type ◽  
Molecular Genetic ◽  
Collagen Type I ◽  
Type I ◽  
Dentinogenesis Imperfecta ◽  
Gene Encoding ◽  
Korean Families ◽  
Whole Exome ◽  
Genes Encoding ◽  
Candidate Gene Sequencing

Hereditary dentin defects can be categorized as a syndromic form predominantly related to osteogenesis imperfecta (OI) or isolated forms without other non-oral phenotypes. Mutations in the gene encoding dentin sialophosphoprotein (DSPP) have been identified to cause dentinogenesis imperfecta (DGI) Types II and III and dentin dysplasia (DD) Type II. While DGI Type I is an OI-related syndromic phenotype caused mostly by monoallelic mutations in the genes encoding collagen type I alpha 1 chain (COL1A1) and collagen type I alpha 2 chain (COL1A2). In this study, we recruited families with non-syndromic dentin defects and performed candidate gene sequencing for DSPP exons and exon/intron boundaries. Three unrelated Korean families were further analyzed by whole-exome sequencing due to the lack of the DSPP mutation, and heterozygous COL1A2 mutations were identified: c.3233G>A, p.(Gly1078Asp) in Family 1 and c.1171G>A, p.(Gly391Ser) in Family 2 and 3. Haplotype analysis revealed different disease alleles in Families 2 and 3, suggesting a mutational hotspot. We suggest expanding the molecular genetic etiology to include COL1A2 for isolated dentin defects in addition to DSPP.

P2.26 Clinical, histological and molecular genetic features of a congenital severe infantile rimmed vacuolar myopathy

2010 ◽  
Vol 20 (9-10) ◽  
pp. 626
Author(s):  
A. D’Amico ◽  
S. Petrini ◽  
F. Fattori ◽  
M. Verardo ◽  
R. Boldrini ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Vacuolar Myopathy ◽  
Genetic Features ◽  
Rimmed Vacuolar Myopathy

scholarly journals De novo adult acute myeloid leukemia with two new mutations in juxtatransmembrane domain of the FLT3 gene: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ismael F. Alarbeed ◽  
Abdulsamad Wafa ◽  
Faten Moassass ◽  
Bassel Al-Halabi ◽  
Walid Al-Achkar ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Molecular Genetic ◽  
Type A ◽  
Chemotherapeutic Treatment ◽  
Acute Myeloid ◽  
New Mutations

Abstract Background Approximately 30% of adult acute myeloid leukemia (AML) acquire within fms-like tyrosine kinase 3 gene (FLT3) internal tandem duplications (FLT3/ITDs) in their juxtamembrane domain (JMD). FLT3/ITDs range in size from three to hundreds of nucleotides, and confer an adverse prognosis. Studies on a possible relationship between of FLT3/ITDs length and clinical outcomes in those AML patients were inconclusive, yet. Case presentation Here we report a 54-year-old Arab male diagnosed with AML who had two FLT3-ITD mutations in addition to NPM1 mutation. Cytogenetic approaches (banding cytogenetics) and fluorescence in situ hybridization (FISH) using specific probes to detect translocations t(8;21), t(15;17), t(16;16), t(12;21), and deletion del(13q)) were applied to exclude chromosomal abnormalities. Molecular genetic approaches (polymerase chain reaction (PCR) and the Sanger sequencing) identified a yet unreported combination of two new mutations in FLT3-ITDs. The first mutation induced a frameshift in JMD, and the second led to a homozygous substitution of c.1836T>A (p.F612L) also in JMD. Additionally a NPM1 type A mutation was detected. The first chemotherapeutic treatment was successful, but 1 month after the initial diagnosis, the patient experienced a relapse and unfortunately died. Conclusions To the best of our knowledge, a combination of two FLT3-ITD mutations in JMD together with an NPM1 type A mutation were not previously reported in adult AML. Further studies are necessary to prove or rule out whether the size of these FLT3-ITDs mutations and potential other double mutations in FLT3-ITD are correlated with the observed adverse outcome.

scholarly journals Genetic and metabolic characteristics of familial isolated pituitary adenomas

2013 ◽  
Vol 10 (2) ◽  
pp. 3-10 ◽  
Author(s):  
N S Dalantaeva ◽  
I I Dedov
Keyword(s):  
Pituitary Adenomas ◽  
Pituitary Tumors ◽  
Suppressor Gene ◽  
Carney Complex ◽  
Incomplete Penetrance ◽  
Chromosome 11 ◽  
Gene Encoding ◽  
Metabolic Characteristics ◽  
Aryl Hydrocarbon ◽  
Aip Gene

Familial isolated pituitary adenoma (FIPA) – a relatively new term for the disease, which is characterized by an autosomal dominant inheritance with incomplete penetrance, resulting in the development of pituitary tumors with no distinguishing features other endocrine diseases or syndromes, such as, for example, the syndrome multiple endocrine neoplasia type 1 (MEN-1 syndrome) or the Carney complex. FIPA-families account for about 2% of all cases of pituitary adenomas. Among the FIPA-family about 15–20% have mutations in the gene encoding the protein aryl hydrocarbon receptor. This suppressor gene located on the long arm of chromosome 11. Etiological gene for the rest of the greater percentage of FIPA-family is still unknown. Germline mutations in the AIP gene have also been found in patients with early development of pituitary adenomas, mainly secreting growth hormone, much rarely – prolactin and adrenocorticotropic hormone without a clear family history. Such cases are called "simple". Somatic mutations of the AIP gene in pituitary tumors or other sites has not yet been described

scholarly journals Observational study on healthcare workers protection in the angiographic suite during the SARS-CoV-2 pandemic: before and during vax era

2021 ◽  
Author(s):  
Massimiliano Cernigliaro ◽  
Davide Negroni ◽  
Miriana Sassone ◽  
Andrea Paladini ◽  
Alessandro Carriero ◽  
...  
Keyword(s):  
Healthcare Workers ◽  
Daily Activities ◽  
Radiology Department ◽  
Morbidity Rate ◽  
Time Interval ◽  
First Case ◽  
Working Shift ◽  
Cleaning Procedures ◽  
Interventional Radiology Department ◽  
New Mutations

Background: Since the first case of Coronavirus Disease 2019 (COVID-19) in Italy, all the hospital facilities had to reform their daily activities. Amidst them, the Interventional Radiology Department in the “Azienda Ospedaliera Universitaria” of Novara (Italy) had to create a dedicated protocol for the patent’s management during the pandemic.Design and Methods: The time interval between February 2020 and March 2021 was divided into three different periods and we reported the evolution of our safety protocol, the changes in our daily activities and the rates of Sars-CoV-2 infection among the healthcare workers (HCW) of the Angiographic Suite. Personnel who had positive partners/family members or who had established close contacts of another nature outside the workplace were excluded from the study, in order to reduce any bias.Results: A total of 35 HCWs served in 355 patient procedures on Sars-CoV-2 positive patients from February 2020 to March 2021. During the year there was a reduction in the morbidity rate first from 7.9% to 1.4% and then currently reaching 0%.Conclusions: Dedicated routes, elevators, establishing Filter Areas and a clear demarcation between clean and contaminated areas, Dressing and undressing procedures, Cleaning procedures and the obligation to always wear a surgical mask during the working shift are essential to prevent in-hospital infection. The vaccines’ arrival seems to further reduce the risk for healthcare workers, but it is still necessary to take docile precautions in view of the new mutations of the virus.

scholarly journals Genetic characterization of Streptococcus pyogenes emm 89 strains isolated in Japan from 2011 to 2019

2020 ◽  
Author(s):  
Yujiro Hirose ◽  
Masaya Yamaguchi ◽  
Norihiko Takemoto ◽  
Tohru Miyoshi-Akiyama ◽  
Tomoko Sumitomo ◽  
...  
Keyword(s):  
Streptococcus Pyogenes ◽  
Genetic Characterization ◽  
Streptococcal Toxic Shock Syndrome ◽  
Toxic Shock ◽  
Gene Encoding ◽  
Serum Opacity Factor ◽  
Genetic Features ◽  
Fibronectin Binding Protein

Streptococcal toxic shock syndrome (STSS) caused by Streptococcus pyogenes emm 89 strains has been increasing in several countries and reported to be linked with a recently emerged clade of emm89 strains, designated clade 3. In Japan, epidemiological and genetic information for emm89 strains remains elusive. In this study, we utilized emm89 strains isolated from both STSS (89 isolates) and non-STSS (72 isolates) infections in Japan from 2011 to 2019, and conducted whole-genome sequencing and comparative analysis, which resulted in classification of a large majority into clade 3 regardless of disease severity. In addition, STSS-associated genes and SNPs were found in clade 3 strains, including mutations of streptokinase (Ska), control of virulence sensor (CovS), serum opacity factor (SOF), sortase (SrtB), and fibronectin-binding protein F1 (PrtF1), and absence of the hylP1 gene encoding hyaluronidase. These findings provide insights into notable genetic features of emm89 strains.

scholarly journals Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

2001 ◽  
Vol 345 (5) ◽  
pp. 325-334 ◽  
Author(s):  
Richard C. Trembath ◽  
Jennifer R. Thomson ◽  
Rajiv D. Machado ◽  
Neil V. Morgan ◽  
Carl Atkinson ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Molecular Genetic ◽  
Genetic Features

Clinical phenotypes and molecular genetic mechanisms of Carney complex

2005 ◽  
Vol 6 (7) ◽  
pp. 501-508 ◽  
Author(s):  
David Wilkes ◽  
Deborah A McDermott ◽  
Craig T Basson
Keyword(s):  
Molecular Genetic ◽  
Carney Complex ◽  
Clinical Phenotypes ◽  
Genetic Mechanisms

Senior-Løken syndrome misdiagnosed as nephrosclerosis related to hypertensive disorders of pregnancy

2020 ◽  
Vol 13 (10) ◽  
pp. e236137
Author(s):  
Yuri Hirai ◽  
Aya Mizumoto ◽  
Kensuke Mitsumoto ◽  
Takashi Uzu
Keyword(s):  
Renal Failure ◽  
Molecular Genetic ◽  
Homozygous Deletion ◽  
Molecular Genetic Analysis ◽  
Inherited Disease ◽  
Hypertensive Disorders Of Pregnancy ◽  
Gene Encoding ◽  
Hypertensive Disorders ◽  
Basement Membrane Thickening ◽  
End Stage

A 31-year-old woman with retinitis pigmentosa who had been diagnosed with renal failure due to nephrosclerosis related to hypertensive disorders of pregnancy was referred to our hospital to prepare for renal replacement therapy. Ultrasonography and MRI of the kidneys revealed multiple corticomedullary cysts. A renal biopsy showed that the tubules were tortuous and atrophic with segmented tubular basement membrane thickening. These findings indicated that she had Senior-Løken syndrome. A molecular genetic analysis was performed, and homozygous deletion of the gene encoding nephronophthisis-1 was found. Thus, the clinical diagnosis of Senior-Løken syndrome was genetically confirmed. Because her renal function was gradually worsening, she was scheduled to undergo living donor kidney transplantation. Senior-Løken syndrome, which is recognised as a very rare paediatric inherited disease characterised by nephronophthisis and eye problems, can cause adult-onset end-stage renal failure.

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