Clinical and molecular characterization of an extended family with Fabry disease.
J Med Assoc Thai
; 89(9): 1528-35, 2006 Sep.
Article
en En
| MEDLINE
| ID: mdl-17100396
ABSTRACT
OBJECTIVE:
To characterize clinical manifestations, biochemical changes, mutation of alpha-Galactosidase (alpha-Gal A) gene A (GLA), and functional capability of mutant protein. MATERIAL ANDMETHOD:
Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present study. In each individual, clinical history, physical examination, leukocyte enzyme activity of alpha-Gal A, and mutation analysis were performed. Those with a mutation were further investigated by ophthalmological and audiological evaluations, electrocardiography, echocardiogram, urinalysis, and blood tests to determine renal insufficiency. Expression study of the mutant protein was performed using a Pichia pastoris expression system.RESULTS:
Four affected males and five symptomatic female carriers were identified. Clinical manifestations included severe neuropathic pain, acroparesthesia, hypo-/hyper-hidrosis, frequent syncope, ischemic stroke, cardiac hypertrophy, corneal dystrophy and cart-wheel cataract, high frequency sensorineural hearing loss, periorbital edema and subcutaneous edema over hands and interphalangeal joints. None had angiokeratoma or renal symptoms. The authors identified a novel mutation, p.L106R, in the GLA gene. Recombinant expression of the mutant protein gave little or no enzyme activity compared to the normal protein.CONCLUSION:
There were intrafamilial clinical variabilities, but consistent findings of the absence of angiokeratoma and renal symptoms, which could represent a unique feature of this particular mutation.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Familia
/
Enfermedad de Fabry
/
Alfa-Galactosidasa
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Aged
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Med Assoc Thai
Año:
2006
Tipo del documento:
Article
País de afiliación:
Tailandia