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. 2023 Sep 15;11(5):101111.
doi: 10.1016/j.gendis.2023.101111. eCollection 2024 Sep.

Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Konstantin Deutsch  1 , Verena Klämbt  1   2   3 , Thomas M Kitzler  1 , Tilman Jobst-Schwan  1   4 , Ronen Schneider  1 , Florian Buerger  1 , Steve Seltzsam  1 , Sherif El Desoky  5 , Jameela A Kari  5 , Farkhanda Hafeez  6 , Maria Szczepańska  7 , Loai A Eid  8 , Hazem S Awad  8 , Muna Al-Saffar  9   10 , Neveen A Soliman  11   12 , Velibor Tasic  13 , Camille Nicolas-Frank  1 , Kirollos Yousef  1 , Luca M Schierbaum  1 , Sophia Schneider  1 , Abdul Halawi  1 , Izzeldin Elmubarak  1 , Katharina Lemberg  1 , Shirlee Shril  1 , Shrikant M Mane  14 , Nancy Rodig  1 , Friedhelm Hildebrandt  1
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Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Konstantin Deutsch et al. Genes Dis. .
No abstract available

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Figures

Figure 1
Figure 1
Results of exome sequencing analysis of 102 families with NPHP-RC. (A) Exome sequencing data of 109 affected individuals of 102 families with NPHP-RC were analyzed for likely causative variants in known NPHP-RC genes (96 genes, Table S1) or known phenocopy genes (84 genes, Table S2). The inner circle of the pie chart summarizes the main results of exome sequencing analysis indicating the number of families solved for a known NPHP-RC gene [A: blue, 45 of 102 families (44%)] or for a phenocopy gene [B: purple, 9 of 102 families (9%)]. Additionally, it shows the number of families in whom we identified a potential novel cause of NPHP-RC [C: red, 13 of 102 families (13%)], and the number of families in which we did not detect a likely causative variant and where thus declared as unsolved [D: yellow, 35 of 102 families (34%)]. The outer circle of the pie chart divides each group into families with consanguinity lower than 60 megabase pairs (solid color) or greater than 60 megabase pairs (hatched color). The grey parts of the pie chart indicate the number of families in which homozygosity mapping has failed. (B) Clinical characteristics of 109 individuals from 102 families with a presumptive diagnosis of NPHP-RC, defined by increased echogenicity, loss of corticomedullary differentiation, and/or ≥ 2 cysts on renal ultrasound.
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