Non-Type I Cystinuria Associated with Mental retardation and Ataxia in a Korean Boy with a New Missence Mutation(G173R) in the SLC7A9 Gene
Journal of Korean Medical Science
; : 172-175, 2010.
Article
em En
| WPRIM
| ID: wpr-176237
Biblioteca responsável:
WPRO
ABSTRACT
Cystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis. It is unusually associated with neurologic symptoms. Mutations in two genes, SLC3A1 and SLC7A9, have been identified in cystinuric patients. This report presents a 13-yr-old boy with cystinuria who manifested difficulty in walking, ataxia, and mental retardation. Somatosensory evoked potential of posterior tibial nerve stimulation showed the central conduction dysfunction through the posterior column of spinal cord. He was diagnosed non-type I cystinuria by urinary amino acid analysis and oral cystine loading test. We screened him and his family for gene mutation by direct sequencing of SLC3A1 and SLC7A9 genes. In this patient, we identified new missence mutation G173R in SLC7A9 gene.
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Índice:
WPRIM
Assunto principal:
Linhagem
/
Ataxia
/
Sequência de Bases
/
Substituição de Aminoácidos
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Mutação de Sentido Incorreto
/
Cistina
/
Cistinúria
/
Sistemas de Transporte de Aminoácidos Básicos
/
República da Coreia
/
Aminoácidos
Limite:
Adolescent
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Journal of Korean Medical Science
Ano de publicação:
2010
Tipo de documento:
Article