Different phenotypic expression of fabry disease in female monozygotic twins

1991 ◽  
Vol 14 (1) ◽  
pp. 105-106 ◽  
Author(s):  
T. Levade ◽  
F. Giordano ◽  
A. Maret ◽  
M.-C. Marguery ◽  
J. Bazex ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Phenotypic Expression ◽  
Monozygotic Twins

scholarly journals Different phenotypic expression in monozygotic twins with Huntington disease

2003 ◽  
Vol 124A (1) ◽  
pp. 89-91 ◽  
Author(s):  
M.H. Anca ◽  
E. Gazit ◽  
R. Loewenthal ◽  
O. Ostrovsky ◽  
M. Frydman ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Phenotypic Expression ◽  
Monozygotic Twins

scholarly journals Variable phenotypic expression of Apert syndrome in monozygotic twins

2018 ◽  
Vol 7 (1) ◽  
pp. 54-57 ◽  
Author(s):  
Matthieu Dap ◽  
Pascale Bach-Segura ◽  
Charline Bertholdt ◽  
Didier Menzies ◽  
Jean-Pierre Masutti ◽  
...  
Keyword(s):  
Phenotypic Expression ◽  
Monozygotic Twins ◽  
Apert Syndrome

Discordant phenotypic expression of Alport syndrome in monozygotic twins

2004 ◽  
Vol 62 (10) ◽  
pp. 313-318 ◽  
Author(s):  
H. Matsukura ◽  
A. Higuchi ◽  
A. Ieki ◽  
T. Miyawaki
Keyword(s):  
Alport Syndrome ◽  
Phenotypic Expression ◽  
Monozygotic Twins

Relationship of birth weight to the phenotypic expression of Gilles de la Tourette's syndrome in monozygotic twins

Neurology ◽  
1992 ◽  
Vol 42 (3) ◽  
pp. 652-652 ◽  
Author(s):  
T. M. Hyde ◽  
B. A. Aaronson ◽  
C. Randolph ◽  
K. C. Rickler ◽  
D. R. Weinberger
Keyword(s):  
Birth Weight ◽  
Phenotypic Expression ◽  
Monozygotic Twins ◽  
Tourette's Syndrome ◽  
Tourette’S Syndrome ◽  
Relationship Of

Phenotypic expression of the myotonic dystrophy gene in monozygotic twins

Neurology ◽  
1992 ◽  
Vol 42 (9) ◽  
pp. 1815-1815 ◽  
Author(s):  
J. R. Dubel ◽  
R. M. Armstrong ◽  
M. B. Perryman ◽  
H. F. Epstein ◽  
T. Ashizawa
Keyword(s):  
Myotonic Dystrophy ◽  
Phenotypic Expression ◽  
Monozygotic Twins

Different phenotypic expression in relatives with Fabry disease caused by a W226X mutation

1999 ◽  
Vol 82 (5) ◽  
pp. 436-439 ◽  
Author(s):  
I.E. Knol ◽  
M.G.E.M. Ausems ◽  
D. Lindhout ◽  
O.P. van Diggelen ◽  
H. Verwey ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Phenotypic Expression

scholarly journals Fabry disease in patients under dialysis: A screening study and identification of a novel mutation

2021 ◽  
Vol 35 (1) ◽  
pp. 29-34
Author(s):  
Francisca Silva, ◽  
◽  
Nicole Pestana ◽  
José Durães ◽  
Nuno Rosa ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Novel Mutation ◽  
Systemic Disease ◽  
Treatment Success ◽  
Phenotypic Expression ◽  
Clinical Manifestations ◽  
Dried Blood Spots ◽  
Exon 2 ◽  
Screening Study ◽  
Gla Gene

Fabry disease (FD) is a rare systemic disease, with a large spectrum of disease severity. A GLA gene mutation in X -chromosome leads to progressive accumulation of globotriaosylceramide (Gb3) in various organs. We screened all patients under dialysis from a single center for GLA gene changes. Enzymatic activity of alpha galactosidase A (α­‑Gal A) and concentration of lyso­‑Gb3 were determined in dried blood spots. Genetic study was performed in male patients with low α­‑Gal A activity and in all female subjects. For all positive patients, a complete family study was performed. A total of 72 dialysis patients were screened. Sequence analysis was carried out in 53 patients (25 males). Heterozygous variants of the GLA gene were found in 4 patients (7.5%): c.937G>T (D313Y) in exon 6; c.352C>T (R118C) in exon 2; c.870G>C (M290I) in exon 6 and c.580A>G (T194A) in exon 4. Family screening was performed in a total of 17 subjects, with a GLA genetic variant prevalence of 58.8%. Unlike p.D313Y and p.R118C, well -known non -pathogenic polymorphisms, p.M290I is a controversial poorly described mutation. Reports about its phenotypic expression are crucial for a better understanding of its behavior. The recognition of the novel mutation p.T194A is important for better knowledge of FD and its spectrum of clinical manifestations. These affected patients are expected to develop a classic and life -threatening FD phenotype and an early diagnosis is essential for their treatment success.

Sign in / Sign up

Export Citation Format

Share Document