Journal of Developmental Medicine(Electronic Version)  2013, Vol. 1 Issue (1): 42-45 DOI: |
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| Identica60n of a muta60n in the5 gene iIl a Chinese familyth Alport syndrome |
| DU han。HUANG Jiall一曲g，ZHAo Xiao—yan
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(Depa岫enl of Nephroiogy&弛ematology，
Bayi Childfeds Hospi翻A蕊lialed
to Be每ing Mi珏taq Region
Gene嘲Hospi伽，BeiJing 100700。China
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Abstract 【Abstract】
Objectives
To
analyze
the clinical features and
gene muta矗om of a Chinese family with
Alpon Syndrome．Methods
The clinical and
laboratory
data of a Chinese
fam订y with Alport Syndrome
were summarized．C0删5，COL钳4 and COj已钳J
genes
were
analyzed using next—generation sequencing．
Results Pmband and his fellow sister
presents
a typical clinical
picture
with onset of
micmscopic
hematuria
and
pmteinuria．They had nomal
renal function．Ultrastmctural
analysis
of renal
biopsy
was
compatible
with a
diagnosis
of AS．However，pmband manifestats earlier and severer clinical
symptoms，including
sensorineural
hearing
10ss and ocular abno硼alities than his sister．Their morther
deVeloped renal failure．A renal biopsy
reVealed focal segmental
glomemlosclerosis．A Glyl32Glu mutation
in CD己钳5 was identified in the
famiy．The
mutation seemed to be
pathogenic by
the
analysis using prediction
software SIFT and
PolyPhen．Conclusion
Our
study
contributes to fhrther
study
of pathogenesis of
Alport syndrome，genetic counselling and prenatal
diagnosis
in Chinese
population．
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Published: 06 September 2019
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