scholarly journals Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease

2021 ◽  
Vol 79 (4) ◽  
pp. 373-376
Author(s):  
Sofia Antunes-Duarte ◽  
Maria Mendonça-Sanches ◽  
Rita Pimenta ◽  
Ana Margarida Coutinho ◽  
Catarina Silveira ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Secretory Pathway ◽  
Autosomal Dominant ◽  
Novel Mutations ◽  
The Third ◽  
Fourth Decade ◽  
Erythematous Plaques

Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, mostly in the third or fourth decade. In 2000, mutations in the ATP2C1 gene on band 3q22.1, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1(hSPCA1), have been identified as the cause of HHD. We report the identification of two novel mutations of ATP2C1 gene in two Portuguese patients, which expands the spectrum of ATP2C1 mutations underlying HHD and provides useful information for genetic counseling.

Hereditary endotheliopathy with retinopathy, nephropathy, and stroke(HERNS)

Neurology ◽  
1997 ◽  
Vol 49 (5) ◽  
pp. 1322-1330 ◽  
Author(s):  
J. Jen ◽  
A. H. Cohen ◽  
Q. Yue ◽  
J. T. Stout ◽  
H. V. Vinters ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Basement Membranes ◽  
American Family ◽  
Psychiatric Disturbance ◽  
Systemic Involvement ◽  
Ultrastructural Studies ◽  
The Third ◽  
Fourth Decade ◽  
The Brain ◽  
Renal Abnormalities

We describe a Chinese American family with a hereditary syndrome consisting of retinopathy, nephropathy, and stroke, affecting 11 members spanning three generations. Ophthalmologic evaluations revealed macular edema with capillary dropout and perifoveal microangiopathic telangiectases. Several members had renal abnormalities with proteinuria and hematuria. Initial manifestations were visual impairment and renal dysfunction; neurologic deficits occurred in the third or fourth decade of life. Symptoms included migraine-like headache, psychiatric disturbance, dysarthria, hemiparesis, and apraxia. Neuroimaging consistently demonstrated contrast-enhancing subcortical lesions with surrounding edema. Ultrastructural studies showed distinctive multilaminated vascular basement membranes in the brain and in other tissues, including the kidney, stomach, appendix, omentum, and skin. Genetic analysis ruled out linkage to the CADASIL locus on chromosome 19. Distinct from CADASIL, hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is an autosomal dominant multi-infarct syndrome with systemic involvement.

Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia

2016 ◽  
Vol 52 (6) ◽  
pp. 603-607 ◽  
Author(s):  
A. F. Akhmetgaleyeva ◽  
I. M. Khidiyatova ◽  
E. V. Saifullina ◽  
R. F. Idrisova ◽  
R. V. Magzhanov ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Spastic Paraplegia ◽  
Novel Mutations

scholarly journals A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.

2014 ◽  
Vol 61 (4) ◽  
Author(s):  
Dagmara Kabzińska ◽  
Katarzyna Kotruchow ◽  
Joanna Cegielska ◽  
Irena Hausmanowa-Petrusewicz ◽  
Andrzej Kochański
Keyword(s):  
Genetic Counseling ◽  
Gene Mutation ◽  
Autosomal Dominant ◽  
Clinical Course ◽  
Axonal Neuropathy ◽  
Gene Mutations ◽  
Special Importance ◽  
Recessive Trait ◽  
Dominant Form ◽  
Charcot Marie Tooth

Charcot-Marie-Tooth (CMT) disease caused by mutations in the GDAP1 gene has been shown to be inherited via traits that may be either autosomal recessive (in the majority of cases) [CMT4A] or autosomal dominant [CMT2K]. CMT4A disease is characterized by an early onset, and a severe clinical course often leading to a loss of ambulation, whereas CMT2K is characterized by a mild clinical course of benign axonal neuropathy beginning even in the 6th decade of life. Clinical data from a GDAP1 mutated patient suggests that the presence of a particular mutation is associated with a certain trait of inheritance. The association of a particular GDAP1 gene mutation and a dominant or recessive trait of inheritance is of special importance for genetic counseling and the prenatal diagnostics as regards severe forms of CMT. In the present study we report on two CMT families in which a newly identified Glu222Lys mutation within the GDAP1 gene segregates both in autosomal dominant and recessive traits. Our study shows that at least some GDAP1 gene mutations may segregate with the CMT phenotype as both dominant and recessive traits. Thus, genetic counseling for CMT4A/CMT2K families requires more extensive data on GDAP1 phenotype-genotype correlations.

scholarly journals Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene

2012 ◽  
Vol 11 (4) ◽  
pp. 344-348 ◽  
Author(s):  
Myrto Poulou ◽  
Irini Fylaktou ◽  
Maria Fotoulaki ◽  
Emmanuel Kanavakis ◽  
Maria Tzetis
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Counseling ◽  
Cftr Gene ◽  
Novel Mutations

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

Neurology ◽  
2006 ◽  
Vol 66 (7) ◽  
pp. 1044-1048 ◽  
Author(s):  
G. Uyanik ◽  
N. Elcioglu ◽  
J. Penzien ◽  
C. Gross ◽  
Y. Yilmaz ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Sensory Neuropathy ◽  
Variable Degree ◽  
Missense Mutations ◽  
Novel Mutations ◽  
The Third ◽  
Truncating Mutation ◽  
Cerebral Mri ◽  
Different Types

Background: Andermann syndrome (OMIM 218000) is an autosomal recessive motor-sensory neuropathy associated with developmental and neurodegenerative defects. The cerebral MRI reveals a variable degree of agenesis of the corpus callosum. Recently, truncating mutations of the KCC3 gene (also known as SLC12A6) have been associated with Andermann syndrome.Methods: The authors assessed clinically and genetically three isolated cases from Germany and Turkey with symptoms consistent with Andermann syndrome.Results: The authors detected four novel mutations within the KCC3 gene in their patients: two different truncating mutations in the first patient, a homozygous truncating mutation in the second, and a homozygous missense mutation in the third patient. In contrast to the classic phenotype of the Andermann syndrome linked to truncating KCC3 mutations the phenotype and the course of the disease linked to the missense mutation appeared to be different (i.e., showing additional features like diffuse and widespread white matter abnormalities).Conclusions: Not only truncating but also missense mutations of the KCC3 gene are associated with Andermann syndrome. Different types of KCC3 mutations may determine different clinical phenotypes.

scholarly journals Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis ofSPG4 reveals eleven novel mutations

2005 ◽  
Vol 25 (5) ◽  
pp. 506-506 ◽  
Author(s):  
Clarice Patrono ◽  
Valentina Scarano ◽  
Federica Cricchi ◽  
Mariarosa A. B. Melone ◽  
Maria Chiriaco ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Spastic Paraplegia ◽  
Novel Mutations

Aneurysmal subarachnoid hemorrhage in young adults: a comparison between patients in the third and fourth decades of life

2003 ◽  
Vol 99 (2) ◽  
pp. 276-279 ◽  
Author(s):  
Tetsuyoshi Horiuchi ◽  
Yuichiro Tanaka ◽  
Kazuhiro Hongo ◽  
Shigeaki Kobayashi
Keyword(s):  
Young Adults ◽  
Clinical Characteristics ◽  
Aneurysmal Subarachnoid Hemorrhage ◽  
Age Groups ◽  
Cerebral Aneurysms ◽  
Content Type ◽  
The Third ◽  
Fourth Decade ◽  
Fine Print ◽  
Two Age Groups

Object. Aneurysmal subarachnoid hemorrhage rarely occurs in young adults. The aim of this work was to clarify the clinical characteristics of ruptured aneurysms in young adults in the third and fourth decades of life and to compare these two age groups. Methods. The authors retrospectively investigated 2493 patients who underwent surgical repair for ruptured cerebral aneurysms during a 14-year period (1988–2001). There were 25 patients (1%) in the third decade of life and 106 patients (4.3%) in the fourth decade. In general, favorable outcome was achieved in both groups. There were significant differences in the sizes and locations of aneurysms between the two age groups. Among patients in the fourth decade of life, the aneurysm was large and was located more often on the anterior cerebral artery. Conclusions. In this study the authors summarize the clinical characteristics of a large series of 131 young adult patients with ruptured cerebral aneurysms. Congenital factors as well as hemodynamic stress may contribute to differences in aneurysm size and location between the two age groups.

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