Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).

TitlePhenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Publication TypeJournal Article
Year of Publication2020
AuthorsWu, C-HWilfred, Mann, N, Nakayama, M, Connaughton, DM, Dai, R, Kolvenbach, CM, Kause, F, Ottlewski, I, Wang, C, Klämbt, V, Seltzsam, S, Lai, EW, Selvin, A, Senguttuva, P, Bodamer, O, Stein, DR, Desoky, SEl, Kari, JA, Tasic, V, Bauer, SB, Shril, S, Hildebrandt, F
JournalGenet Med
Volume22
Issue10
Pagination1673-1681
Date Published2020 10
ISSN1530-0366
KeywordsChild, Eye Abnormalities, Forkhead Transcription Factors, Heterozygote, Humans, Kidney, Phenotype, Urinary Tract
Abstract

PURPOSE: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in childhood and adolescence. We aim to identify novel monogenic causes of CAKUT.

METHODS: Exome sequencing was performed in 550 CAKUT-affected families.

RESULTS: We discovered seven FOXC1 heterozygous likely pathogenic variants within eight CAKUT families. These variants are either never reported, or present in

CONCLUSION: We thereby expanded the phenotype of FOXC1 pathogenic variants toward involvement of CAKUT, which can potentially be explained by allelism.
DOI10.1038/s41436-020-0844-z
Alternate JournalGenet Med
PubMed ID32475988
Grant ListT32 DK007726 / DK / NIDDK NIH HHS / United States
U54 HG006504 / HG / NHGRI NIH HHS / United States
T32 GM007748 / GM / NIGMS NIH HHS / United States
R01 DK088767 / DK / NIDDK NIH HHS / United States
DK088767 / NH / NIH HHS / United States