scholarly journals Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype

2011 ◽  
Vol 155 (4) ◽  
pp. 819-824 ◽  
Author(s):  
Erin P. Carmany ◽  
Erawati V. Bawle
Keyword(s):  
Unbalanced Translocation ◽  
Mild Phenotype

New mutation in TSC1-gene in a sporadic case with initially mild phenotype

2012 ◽  
Vol 43 (02) ◽  
Author(s):  
C Thiels ◽  
C Köhler ◽  
K Weigt-Usinger ◽  
C Sutter ◽  
T Lücke
Keyword(s):  
Sporadic Case ◽  
New Mutation ◽  
Mild Phenotype ◽  
Tsc1 Gene

scholarly journals A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290

Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1240
Author(s):  
Agnieszka Rafalska ◽  
Anna M. Tracewska ◽  
Anna Turno-Kręcicka ◽  
Milena J. Szafraniec ◽  
Marta Misiuk-Hojło
Keyword(s):  
Vision Loss ◽  
Compound Heterozygous ◽  
Loss Of Function ◽  
Mild Phenotype ◽  
Cone Function ◽  
Retinal Disorders ◽  
Molecular Inversion Probes ◽  
Disease Experience ◽  
The Individual ◽  
Inherited Retinal Disorders

CEP290 is a ciliary gene frequently mutated in ciliopathies, resulting in a broad range of phenotypes, ranging from isolated inherited retinal disorders (IRDs) to severe or lethal syndromes with multisystemic involvement. Patients with non-syndromic CEP290-linked disease experience profound and early vision loss due to cone-rod dystrophy, as in Leber congenital amaurosis. In this case report, we describe two novel loss-of-function heterozygous alterations in the CEP290 gene, discovered in a patient suffering from retinitis pigmentosa using massive parallel sequencing of a molecular inversion probes library constructed for 108 genes involved in IRDs. A milder phenotype than expected was found in the individual, which serves to prove that some CEP290-associated disorders may display preserved cone function.

scholarly journals Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

2021 ◽  
Author(s):  
Paolo Zanoni ◽  
Katharina Steindl ◽  
Deepanwita Sengupta ◽  
Pascal Joset ◽  
Angela Bahr ◽  
...  
Keyword(s):  
Loss Of Function ◽  
Mild Phenotype ◽  
Psychological Issues ◽  
Missense Variants ◽  
Mild Developmental Delay ◽  
Pathogenic Variants ◽  
In Silico Modeling ◽  
And Function ◽  
Methylation Activity

Abstract Purpose Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical spectrum associated with NSD2 pathogenic variants remains poorly understood. Methods We collected a comprehensive series of 18 unpublished patients carrying heterozygous missense, elongating, or truncating NSD2 variants; compared their clinical data to the typical WHS phenotype after pooling them with ten previously described patients; and assessed the underlying molecular mechanism by structural modeling and measuring methylation activity in vitro. Results The core NSD2-associated phenotype includes mostly mild developmental delay, prenatal-onset growth retardation, low body mass index, and characteristic facial features distinct from WHS. Patients carrying missense variants were significantly taller and had more frequent behavioral/psychological issues compared with those harboring truncating variants. Structural in silico modeling suggested interference with NSD2’s folding and function for all missense variants in known structures. In vitro testing showed reduced methylation activity and failure to reconstitute H3K36me2 in NSD2 knockout cells for most missense variants. Conclusion NSD2 loss-of-function variants lead to a distinct, rather mild phenotype partially overlapping with WHS. To avoid confusion for patients, NSD2 deficiency may be named Rauch–Steindl syndrome after the delineators of this phenotype.

Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families

2001 ◽  
Vol 154 (3) ◽  
pp. 557-565 ◽  
Author(s):  
M.N. Slimane ◽  
S. Lestavel ◽  
X.-M. Sun ◽  
F. Maatouk ◽  
A.K. Soutar ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Receptor Gene ◽  
Ldl Receptor ◽  
Mild Phenotype ◽  
Exon 10

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

2009 ◽  
Vol 149A (11) ◽  
pp. 2584-2587 ◽  
Author(s):  
Caroline Schluth-Bolard ◽  
Damien Sanlaville ◽  
Audrey Labalme ◽  
Marianne Till ◽  
Laurence Michel-Calemard ◽  
...  
Keyword(s):  
Mild Phenotype

Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): case report and review of terminal 8p deletions

2004 ◽  
Vol 47 (2) ◽  
pp. 191-197 ◽  
Author(s):  
K. Bosse ◽  
T. Eggermann ◽  
K. Van der Ven ◽  
R. Raff ◽  
H. Engels ◽  
...  
Keyword(s):  
Case Report ◽  
Unbalanced Translocation

Abstract 280: Deficiency of FKBP12 in the Heart Leads to Impaired Contractility and Pregnancy Induced Cardiomyopathy

2013 ◽  
Vol 113 (suppl_1) ◽  
Author(s):  
Joshua Oakes ◽  
Susan Hamilton
Keyword(s):  
Ejection Fraction ◽  
Ryanodine Receptors ◽  
Left Ventricular ◽  
Heart Weight ◽  
Mild Phenotype ◽  
Adult Mice ◽  
Significant Difference ◽  
Fk506 Binding Proteins ◽  
Deficient Mice ◽  
Fractional Shortening

FK506 Binding Proteins (FKBPs) are a family of cis-trans prolyl isomerases that bind rapamycin and FK506. FKBP12 and 12.6 interact with ryanodine receptors (RyR), homotetrameric transmembrane ion channels that regulate Ca2+ release from the sarcoplasmic reticulum (SR). FKBP12 interacts with RyR1 in skeletal muscle and FKBP12.6 interacts with RyR2 in cardiac muscle to regulate the Ca2+ leak properties of these channels. Recently it has been suggested that FKBP12 also plays a role in regulating RyR2 activity. Using mice with a cardiac specific deficiency in FKBP12, we analyzed the role of FKBP12 in cardiac function. We found that both male and female mice with a α-MyHC Cre/Lox mediated deficiency in FKBP12 in the heart (FKBP12 KD) developed a mild dilated cardiomyopathy, with enlarged left ventricular diameter both during systole and diastole, decreased ejection fraction and decreased fractional shortening. To elucidate the mechanism for these effects we assessed Ca2+ sparks in isolated cardiomyocytes. We found an increase in both Ca2+ spark frequency and spark amplitude in FKBP12 cardiac deficient mice without a change in spark duration. Despite a mild phenotype in adult mice, we found that approximately 25% of all pregnancies (26/106) in the FKBP12 deficient mice resulted in the mothers dying following the birth. Autopsies show that these cardiac specific FKBP12 deficient mice had increased heart weight and significantly dilated ventricles compared to female Cre mice. Our data suggest that a cardiac specific deficiency in FKBP12 leads to the development of pregnancy induced cardiomyopathy. Echocardiography on FKBP12 deficient mice one day after giving birth found that there was no significant difference in ejection fraction or fractional shortening compared to α-MyHC Cre control mice. FKBP12 deficient females, however, had larger hearts and 50% (2/4) displayed heart failure and died. In conclusion, we show that FKBP12 does indeed alter Ca2+ handling in the heart and that a loss of FKBP12 leads to the development of pregnancy induced cardiomyopathies in females.

scholarly journals A case of mild phenotype Alport syndrome caused by COL4A3 mutations

2017 ◽  
Vol 6 (2) ◽  
pp. 189-193 ◽  
Author(s):  
Masafumi Kamijo ◽  
Mineaki Kitamura ◽  
Kumiko Muta ◽  
Tadashi Uramatsu ◽  
Yoko Obata ◽  
...  
Keyword(s):  
Alport Syndrome ◽  
Mild Phenotype
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