Mutational analysis of MYO1E in Chinese children with familial steroid-resistant nephrotic syndrome / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 349-355, 2014.
Article
em Zh
| WPRIM
| ID: wpr-269474
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>Steroid-resistant nephrotic syndrome (SRNS) with MYO1E mutations has been identified as autosomal recessive focal segmental glomerulosclerosis (FSGS). To date, only two homozygous mutations in the MYO1E gene were reported in three families with FSGS. This study aimed to examine mutations in the MYO1E gene in children with familial SRNS in the Han Chinese ethnic group.</p><p><b>METHODS</b>Between 2005 and 2010, peripheral blood samples were collected from the probands, their siblings and parents of four families with autosomal recessive SRNS in the Han Chinese ethnic group. Four probands were studied from nine patients. The mutational analysis of MYO1E was performed by polymerase chain reaction and direct DNA sequencing. Fifty-nine healthy volunteers with normal urine analysis were included as controls.</p><p><b>RESULTS</b>Twenty-five MYO1E variants in the prohands from 4 families with SRNS were identified in this study. Among them, 24 variants were found in NCBI dbSNP. One heterozygous mutation IVS21-85G>A was found in the prohand from Family D, whereas it was absent in 59 normal Chinese controls. No splice site change caused by IVS21-85G>A was reported by analysis with NetGene2.</p><p><b>CONCLUSIONS</b>MYO1E mutations are not a major cause of Chinese familial SRNS in this study.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Análise Mutacional de DNA
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China
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Miosina Tipo I
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Etnologia
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Genética
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Mutação
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Síndrome Nefrótica
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2014
Tipo de documento:
Article