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A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
Abid, Aiysha; Khaliq, Shagufta; Shahid, Saba; Lanewala, Ali; Mubarak, Mohammad; Hashmi, Seema; Kazi, Javed; Masood, Tahir; Hafeez, Farkhanda; Naqvi, Syed Ali Anwar; Rizvi, Syed Adeebul Hasan; Mehdi, Syed Qasim.
Afiliación
  • Abid A; Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Gene ; 502(2): 133-7, 2012 Jul 10.
Article en En | MEDLINE | ID: mdl-22565185
BACKGROUND: Mutations in the NPHS1 and NPHS2 genes are among the main causes of early-onset and familial steroid resistant nephrotic syndrome respectively. This study was carried out to assess the frequencies of mutations in these two genes in a cohort of Pakistani pediatric NS patients. METHODS: Mutation analysis was carried out by direct sequencing of the NPHS1 and NPHS2 genes in 145 nephrotic syndrome (NS) patients. This cohort included 36 samples of congenital or infantile onset NS cases and 39 samples of familial cases obtained from 30 families. RESULTS: A total of 7 homozygous (6 novel) mutations were found in the NPHS1 gene and 4 homozygous mutations in the NPHS2 gene. All mutations in the NPHS1 gene were found in the early onset cases. Of these, one patient has a family history of NS. Homozygous p.R229Q mutation in the NPHS2 gene was found in two children with childhood-onset NS. CONCLUSIONS: Our results show a low prevalence of disease causing mutations in the NPHS1 (22% early onset, 5.5% overall) and NPHS2 (3.3% early onset and 3.4% overall) genes in the Pakistani NS children as compared to the European populations. In contrast to the high frequency of the NPHS2 gene mutations reported for familial SRNS in Europe, no mutation was found in the familial Pakistani cases. To our knowledge, this is the first comprehensive screening of the NPHS1 and NPHS2 gene mutations in sporadic and familial NS cases from South Asia.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Péptidos y Proteínas de Señalización Intracelular / Proteínas de la Membrana / Mutación / Síndrome Nefrótico Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia / Europa Idioma: En Revista: Gene Año: 2012 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Péptidos y Proteínas de Señalización Intracelular / Proteínas de la Membrana / Mutación / Síndrome Nefrótico Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia / Europa Idioma: En Revista: Gene Año: 2012 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Países Bajos