TY - JOUR
T1 - Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
AU - Hines, Stephanie L.
AU - Agarwal, Anjali
AU - Ghandour, Mohamedanwar
AU - Nabeel, Aslam
AU - Mohammad, Ahmed N.
AU - Atwal, Paldeep S.
N1 - Publisher Copyright:
© 2018 The Author(s).
PY - 2018/12/1
Y1 - 2018/12/1
N2 - We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a heterozygous, likely pathogenic variant in COL4A4 (c.2842G>T). Both these variants in COL4A5 and COL4A4 are novel, and they were detected using whole exome sequencing and gene panel testing, respectively. Additionally, we discuss the complexities of diagnosis in such cases and the benefits of using the abovementioned diagnostic approaches.
AB - We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a heterozygous, likely pathogenic variant in COL4A4 (c.2842G>T). Both these variants in COL4A5 and COL4A4 are novel, and they were detected using whole exome sequencing and gene panel testing, respectively. Additionally, we discuss the complexities of diagnosis in such cases and the benefits of using the abovementioned diagnostic approaches.
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U2 - 10.1038/s41439-018-0016-8
DO - 10.1038/s41439-018-0016-8
M3 - Article
AN - SCOPUS:85068310812
SN - 2054-345X
VL - 5
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 15
ER -