PMC3620815_01
Pedigree Alport Syndrome X-linked.
cmped-6-2012-041f1.jpg
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In the maternal family (Fig. 1), the patient's grandmother (patient F), aunt (patient E) and her two sons (patients B and C) are also affected.
PMC3620815_02
PMC3620815_03
Pedigree Alport Syndrome X-linked.
cmped-6-2012-041f1.jpg
PMC3620815_04_cmped-6-2012-041f1.jpg
f1-cmped-6-2012-041
In the maternal family (Fig. 1), the patient's grandmother (patient F), aunt (patient E) and her two sons (patients B and C) are also affected.
PMC3620815_04
Pedigree Alport Syndrome X-linked.
cmped-6-2012-041f1.jpg
PMC3620815_04_cmped-6-2012-041f1.jpg
f1-cmped-6-2012-041
In the maternal family (Fig. 1), the patient's grandmother (patient F), aunt (patient E) and her two sons (patients B and C) are also affected.
Alport syndrome X-linked. COL4A5 gene.
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PMC3620815_04_cmped-6-2012-041f2.jpg
f2-cmped-6-2012-041
Genetic analysis was performed in the family, due to the clinical findings and the family history (Fig. 2).
Alport syndrome X-linked. COL4A5 gene.. Note: Electrophoregram shows G to T substitution at position 3614 of the COL4A5 gene.
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PMC3620815_04_cmped-6-2012-041f3.jpg
f3-cmped-6-2012-041
NM_033380 as a reference sequence. Sequence analysis revealed a G to T substitution at position 3614 of COL4A5 mRNA in hemizygosis (c.3614G > T), which changes glycine 1205 to valine (p.Gly1205Val) and thereby interrupts the Gly-X-Y repeat sequence alpha5 triple helix. No other sequence variants were identified in the entire coding region of COL4A5 gene (Fig. 3).