Search results for "novel mutation"

A novel mutation (Thr116IIe) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease

2004

We report a novel presenilin 1 (PSN1) mutation (Thr116Ile) in a woman with early onset Alzheimer's disease (AD). This mutation was not found in 100 healthy controls, indicating that this is not a common polymorphism. The patient presented with forgetfulness at age 45, followed over the next 3 years by a worsening of the memory loss and frequent episodes of confusion and spatial disorientation. Neuroimaging studies were consistent with AD. The analysis of the family's pedigree showed that the proband was apparently the only member affected. Because the early death of several close relatives (i.e. the mother and the grandmother) and the demonstration that the father is not a mutation carrier,…

Recurrent Granular Dystrophy of the Cornea

2006

Purpose: To describe a case of severe corneal granular dystrophy with clinicopathologic and molecular genetic findings. Methods: The DNAs of a 53-year-old male patient suffering from corneal granular dystrophy and nonaffected family members was analyzed by molecular genetic methods. Clinical features, and histopathologic and immunohistochemical findings from the penetrating keratoplasty specimen, are described. Results: Histopathologic and molecular genetic findings confirmed the diagnosis. A new genetic polymorphism is described. Histopathologic evidence supports the assumption of the epithelial origin of the described dystrophy. Conclusions: A severe course of corneal granular dystrophy c…

Genotype–phenotype correlation in a new Fabry-disease-causing mutation

2019

Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD-causing mutations have been identified in the human GLA gene. We identified a novel mutation in a Lithuanian family with classical manifestations of Fabry disease, revealing severe effects to the cardiovascular systems of heterozygous women. Case presentation: A 49-year-old woman underwent echocardiography due to progressive dyspnea that lasted seven years, reduced physical a…

Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family

2013

The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of th…

Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A

2010

A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia

2000

Winterpacht, Andreas, Katja Hilbert, Christiane Stelzer, Thorsten Schweikardt, Heinz Decker, Hugo Segerer, Jürgen Spranger, and Bernhard Zabel. A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. Physiol. Genomics 2: 9–12, 2000.—Fibroblast growth factor receptor 3 (FGFR3) is a glycoprotein that belongs to the family of tyrosine kinase receptors. Specific mutations in the FGFR3 gene are associated with autosomal dominant human skeletal disorders such as hypochondroplasia, achondroplasia, and thanatophoric dysplasia. Hypochondroplasia (HCH), the mildest form of this group of short-limbed dwarfism disorders, results in ∼60% of cases from a mut…

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.

1998

A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be responsible for the disease since it leads to a truncated protein that presumably has no function.

Familial Left Ventricular Noncompaction Associated With a Novel Mutation in the Alpha-cardiac Actin Gene

2014

P03-010-B - A novel mutation in MEFV gene is not enough

2013

Genotype-phenotype correlation is still challenging in FMF patients especially when the disease is part of a complex autoinflammatory disease.

A large view of CYP21 locus among Sicilians and other Populations: identification of a novel CYP21A2 variant in Sicily.

2011

Background. Several mutations in CYP21 locus cause 21-Hydroxylase Deficiency (21-OHD). The most common mutations are widespread among the different geographic areas and their frequencies have been also reported to differ among certain populations. Aim. To obtain a large view on the frequencies of the most common mutations in the CYP21 locus, in Sicily, in Mediterranean and in other major geographic areas in the worldwide. Subjects and Methods. 308 unrelated CYP21A2 alleles leading 21-OHD in Sicily were genetically typed and compared with other series previously reported in Sicily and in surrounding regions. An analysis of the frequencies of the different geographic areas was also carried ou…