Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

المؤلفون المشاركون

Nguyen, Thi Kim Lien
Pham, Van Dem
Nguyen, Thu Huong
Pham, Trung Kien
Nguyen, Thi Quynh Huong
Nguyen, Huy Hoang

المصدر

Case Reports in Genetics

العدد

المجلد 2017، العدد 2017 (31 ديسمبر/كانون الأول 2017)، ص ص. 1-7، 7ص.

الناشر

Hindawi Publishing Corporation

تاريخ النشر

2017-03-14

دولة النشر

مصر

عدد الصفحات

7

التخصصات الرئيسية

الأحياء

الملخص EN

Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait.

The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races.

Mutations in the NPHS1 gene, which encodes nephrin, are the main causes of congenital nephrotic syndrome in patients.

In this study, we report the first mutational analysis of the NPHS1 gene in three unrelated children from three different Vietnamese families.

These patients were examined and determined to be suffering from congenital nephrotic syndrome in the Department of Pediatrics, Vietnam National Hospital of Pediatrics.

All 29 exons and exon-intron boundaries of NPHS1 were analyzed by PCR and DNA sequencing.

Genetic analysis of the NPHS1 gene revealed one compound heterozygous variant p.Glu117Lys, one heterozygous missense mutation p.Asp310Asn, and one heterozygous frame-shifting mutation (c.3250_3251insG causing p.Val1084Glyfs⁎12) in patient 1.

In patient 2, one heterozygous variant p.Glu117Lys and one novel heterozygous missense mutation p.Ser324Ala were identified.

Finally, a novel missense mutation p.Arg802Leu and a novel nonsense mutation (c.2442C>G causing p.K792⁎) were identified in patient 3.

نمط استشهاد جمعية علماء النفس الأمريكية (APA)

Nguyen, Thi Kim Lien& Pham, Van Dem& Nguyen, Thu Huong& Pham, Trung Kien& Nguyen, Thi Quynh Huong& Nguyen, Huy Hoang. 2017. Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. Case Reports in Genetics،Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1145333

نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)

Nguyen, Thi Kim Lien…[et al.]. Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. Case Reports in Genetics No. 2017 (2017), pp.1-7.
https://search.emarefa.net/detail/BIM-1145333

نمط استشهاد الجمعية الطبية الأمريكية (AMA)

Nguyen, Thi Kim Lien& Pham, Van Dem& Nguyen, Thu Huong& Pham, Trung Kien& Nguyen, Thi Quynh Huong& Nguyen, Huy Hoang. Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. Case Reports in Genetics. 2017. Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1145333

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references

رقم السجل

BIM-1145333