|
Document Type |
: |
Article In Journal |
|
Document Title |
: |
Ninteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS) تسعة عشر طفرة جديدة في جين NPHS1 في مجموعة مرضى المتلازمة الكلوية الخلقية من مختلف انحاء العالم |
|
Subject |
: |
Hereditary Disorders |
|
Document Language |
: |
English |
|
Abstract |
: |
Background. Recessive mutations in the NPHS1 gene
encoding nephrin account for ∼40% of infants with congenital
nephrotic syndrome (CNS). CNS is defined as steroid-
resistant nephrotic syndrome (SRNS) within the first
90days of life. Currently, more than 119 different mutations
of NPHS1 have been published affecting most exons.
Methods. We here performed mutational analysis of
NPHS1 in a worldwide cohort of 67 children from 62 different
families with CNS.
Results. We found bi-allelic mutations in 36 of the 62 families
(58%) confirming in a worldwide cohort that about
one-half of CNS is caused by NPHS1 mutations. In 26
families, mutations were homozygous, and in 10, they
were compound heterozygous. In an additional nine patients
from eight families, only one heterozygous mutation
was detected. We detected 37 different mutations. Nineteen
of the 37 were novel mutations (∼51.4%), including
11 missense mutations, 4 splice-site mutations, 3 nonsense
mutations and 1 small deletion. In an additional patient
with later manifestation, we discovered two further novel
mutations, including the first one affecting a glycosylation
site of nephrin.
Conclusions. Our data hereby expand the spectrum of
known mutations by 17.6%. Surprisingly, out of the two
siblings with the homozygous novel mutation L587R in
NPHS1, only one developed nephrotic syndrome before
the age of 90days, while the other one did not manifest
until the age of 2years. Both siblings also unexpectedly
experienced an episode of partial remission upon steroid
treatment. |
|
ISSN |
: |
0931-0509 |
|
Journal Name |
: |
Nephrology Dialysis Transplantation |
|
Volume |
: |
25 |
|
Issue Number |
: |
9 |
|
Publishing Year |
: |
1431 AH
2010 AD |
|
Article Type |
: |
Article |
|
Added Date |
: |
Sunday, May 29, 2011 |
|
Researchers
| جميلة قاري | Qari, Jameela | Researcher | Doctorate | |
|