scholarly journals Valosin-Containing Protein Gene Mutations: Cellular Phenotypes Relevant to Neurodegeneration

2011 ◽  
Vol 44 (2) ◽  
pp. 91-102 ◽  
Author(s):  
Karen S. Poksay ◽  
David T. Madden ◽  
Anna K. Peter ◽  
Kayvan Niazi ◽  
Surita Banwait ◽  
...  
Keyword(s):  
Protein Gene ◽  
Gene Mutations ◽  
Cellular Phenotypes

Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia

2003 ◽  
Vol 166 (1) ◽  
pp. 177-185 ◽  
Author(s):  
Takao Maruyama ◽  
Naohiko Sakai ◽  
Masato Ishigami ◽  
Ken-ichi Hirano ◽  
Takeshi Arai ◽  
...  
Keyword(s):  
Cholesteryl Ester ◽  
Cholesteryl Ester Transfer Protein ◽  
Protein Gene ◽  
Gene Mutations ◽  
Transfer Protein ◽  
Phenotypic Spectrum

scholarly journals Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

2010 ◽  
Vol 3 (4) ◽  
pp. 314-322 ◽  
Author(s):  
Perry Elliott ◽  
Constantinos O'Mahony ◽  
Petros Syrris ◽  
Alison Evans ◽  
Christina Rivera Sorensen ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Protein Gene ◽  
Gene Mutations ◽  
Desmosomal Protein

Case Report of a 33-year-old with Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy

2021 ◽  
pp. 1-2
Author(s):  
Sedigheh Saedi ◽  
Pooneh Pashapour ◽  
Golnaz Houshmand
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Tricuspid Valve ◽  
Cardiac Death ◽  
Rare Case ◽  
Protein Gene ◽  
Gene Mutations ◽  
Left Ventricular ◽  
Congenital Disease ◽  
Ventricular Cardiomyopathy ◽  
Sarcomeric Protein

Abstract Ebstein malformation of tricuspid valve is a congenital disease of tricuspid valve with associated right ventricular cardiomyopathy. Hypertrophic cardiomyopathy is a form of inherited left ventricular cardiomyopathy caused by sarcomeric protein gene mutations with inherent risks of sudden cardiac death. Here we report a rare case with co-occurrence of Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy in a young patient.

Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations

Neurology ◽  
2001 ◽  
Vol 56 (6) ◽  
pp. 785-788 ◽  
Author(s):  
S. Bonavita ◽  
R. Schiffmann ◽  
D.F. Moore ◽  
K. Frei ◽  
B. Choi ◽  
...  
Keyword(s):  
Protein Gene ◽  
Gene Mutations ◽  
Proteolipid Protein

SNP Array Genotyping Reveals Constitutional and Mosaic Losses of Ribosomal Protein Gene Regions In Patients with Diamond Blackfan Anemia without Ribosomal Protein Gene Mutations.

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 1168-1168 ◽  
Author(s):  
Jason E. Farrar ◽  
Adrianna Vlachos ◽  
Eva Atsidaftos ◽  
Hannah Carlson-Donohoe ◽  
Steven R. Ellis ◽  
...  
Keyword(s):  
Ribosomal Protein ◽  
Allele Frequency ◽  
Peripheral Blood ◽  
Signal Intensity ◽  
Protein Gene ◽  
Snp Array ◽  
Gene Mutations ◽  
Ribosomal Protein Gene ◽  
Allelic Loss ◽  
Telomeric Region

Abstract Abstract 1168 Background: DBA is a congenital anemia that results from failure of adequate erythrocyte expansion from erythroid precursors, often associated with congenital physical abnormalities. Mutations of eleven ribosomal protein (RP) genes have been confirmed in association with DBA, with several other RP gene changes of uncertain significance reported in isolated cases. However, despite a series of sequencing studies in DBA including all of the RP genes, no genetic abnormality has been identified in ∼40% of patients, suggesting the possibility of additional genetic changes. Aim: We performed SNP array genotyping on DBA blood samples without identified RP gene mutations to determine whether allelic loss of one or more RP genes, which would not be identified by sequencing, might be responsible for DBA in these patients. Method: We performed SNP array genotyping on 23 DBA probands, 5 parents, 1 affected and 1 unaffected sibling. Genomic DNA from peripheral blood mononuclear cells was hybridized to HumanOmni1-Quad BeadChips and copy number variants (CNVs) were identified using a hidden Markov model-based algorithm integrating signal intensity with SNP distribution. Regions of putative copy variation were queried for overlap with RP genes. Fractional mosaicism was estimated by modeling B-allele frequency data against mosaic models using an iterated, non-linear continuous distribution function regression model. Results: We identified regional monosomy of chromosomal regions containing RP genes with established relevance to DBA in 3 probands: 1) a 16 Kb deletion involving RPS26, 2) a 1.6 Mb deletion that includes RPS17, and 3) an 828 Kb deletion involving RPS19. The latter patient had macrocephaly with developmental delay and was not steroid responsive. The former two patients were steroid-responsive and lacked physical abnormalities. In addition to constitutional copy loss at RP gene loci, we identified 3 examples of mosaic regional copy loss involving RP genes. Mosaicism is visualized by SNP genotyping as a symmetric splitting around 0.5 of the B-allele frequency plot into two distinct histogram peaks in regions of reduced signal intensity (Fig 1a & b). One patient, discussed in detail separately, demonstrated two discrete regions of mosaic loss on 5q in a region that includes RPS14 and is associated with 5q- MDS (Fig 1a). The monosomic fraction was estimated at 64% in mixed peripheral blood DNA. Similar analysis of DNA from sorted lymphoid and myeloid peripheral blood populations demonstrated near total monosomy in myeloid and disomy of these regions in lymphoid DNA. This abnormality was not found in either parent, further confirming somatic copy loss. Two siblings evaluated from a family of 3 affected siblings demonstrated variable mosaicism of 3q, including the telomeric region containing RPL35a (Fig 1b). The degree of deletion was greatest at the telomeric end (23% at 187M-qter) and decreased approaching the centromere. DNA from a third sibling and father were not available; however no similar abnormality was detected in the mother. All siblings have modest neutropenia but lack physical abnormalities. None responded to corticosteroid therapy though two achieved spontaneous remission at 12 and 16 years of age. The father had a history of anemia and developed MDS progressing to AML at 44 years of age. A third variably mosaic chromosomal abnormality was identified on the long arm of chromosome 15 in one proband. The involved region spans the entire long arm, and like the 3q abnormality, shows the highest fractional mosaicism at the telomere. This patient is also steroid-unresponsive and lacks physical abnormalities. RPS17, RPL4, RPLP1 and RPS27L all lie in the telomeric half of 15q. Conclusion: We detected deletions of known or suspected DBA-related genes in a cohort of patients in whom no mutations could be found by RP sequencing. The rate of detection (6/23, 26%) suggests that deletions may explain a portion of patients in whom RP gene mutations cannot be identified. These data demonstrate the novel finding of chromosome-specific variable mosaicism in a hematologic disorder, a finding which suggests inheritance (3q-) or potentially acquisition (15q-) of a factor predisposing to regional chromosomal instability. Finally, these findings suggest the possibility of hematopoietic mosaicism as a determinant of remission from anemia seen in ∼20% of patients with DBA. Disclosures: No relevant conflicts of interest to declare.

Familial isolated pituitary adenoma syndrome

2011 ◽  
Vol 152 (18) ◽  
pp. 722-730 ◽  
Author(s):  
Judit Dénes ◽  
Márta Korbonits ◽  
Erika Hubina ◽  
Gábor László Kovács ◽  
László Kovács ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Aryl Hydrocarbon Receptor ◽  
Pituitary Adenomas ◽  
Protein Gene ◽  
Gene Mutations ◽  
Carney Complex ◽  
Incomplete Penetrance ◽  
Causative Gene ◽  
Interacting Protein ◽  
Aryl Hydrocarbon

Familial pituitary adenomas occur in multiple endocrine neoplasia type 1, Carney complex, as well as in familial isolated pituitary adenoma syndrome. Familial isolated pituitary adenoma syndrome is an autosomal dominant disease with incomplete penetrance. Pituitary adenomas occur in familial setting but without any other specific tumors. In 20-40% of families with this syndrome, mutations have been identified in the aryl hydrocarbon receptor interacting protein gene while in the rest of the families the causative gene or genes have not been identified. Families carrying aryl hydrocarbon receptor interacting protein gene mutations have a distinct phenotype with younger age at diagnosis and a predominance of somatotroph and lactotroph adenomas. Germline mutations of the aryl hydrocarbon receptor interacting protein gene can be occasionally identified in usually young-onset seemingly sporadic cases. Genetic and clinical testing of relatives of patients with aryl hydrocarbon receptor interacting protein gene mutations can lead to earlier diagnosis and treatment at an earlier stage of the pituitary tumor. Orv. Hetil., 2011, 152, 722–730.

G protein gene mutations in patients with multiple endocrinopathies.

1995 ◽  
Vol 80 (5) ◽  
pp. 1702-1705
Author(s):  
E A Williamson ◽  
S J Johnson ◽  
S Foster ◽  
P Kendall-Taylor ◽  
P E Harris
Keyword(s):  
G Protein ◽  
Protein Gene ◽  
Gene Mutations

scholarly journals Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy

2009 ◽  
Vol 2 (5) ◽  
pp. 436-441 ◽  
Author(s):  
Juan Pablo Kaski ◽  
Petros Syrris ◽  
Maria Teresa Tome Esteban ◽  
Sharon Jenkins ◽  
Antonios Pantazis ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Protein Gene ◽  
Gene Mutations ◽  
Preadolescent Children
Sign in / Sign up

Export Citation Format

Share Document