Correction to: Genetics in Medicine 22:2020; 10.1038/s41436-020-0772-y; published online 17 March 2020
The original PDF version of this Article contained an error in Table 3. For subject number 74, the column labeled “Genetic testing” should read CFI p.Tyr369Ser, not CFI p.Tyr200Ser. This has now been corrected in both the PDF and HTML versions of the Article.
Table 3.
Patients with a known genetic disease referred to the clinic for disease management (n = 19).
| Subject number | Sex/age/ ethnicity | FH | Diagnosis | Basis for diagnosis | Genetic testing | Testing lab | ACMG criteria | Reason for referral |
|---|---|---|---|---|---|---|---|---|
| 1 | F/50/EUR | Yes—multiple | Fabry disease | Low α-GAL A; positive family history | GLA p.Arg227Gln | Mount Sinai, New York, NY | LP: PM1, PM2, PP2, PP3, PP5 | Renal biopsy |
| 4–1 | F/56/EUR | Yes—multiple | ADPKD | Cystic kidneys, positive family history | IIHG (Kidneyseq™), Iowa City, IA | CKD f/u | ||
| 6 | M/21/EUR | Yes—multiple | Fabry disease | Low α-GAL A; positive family history | GLA p.Ser297Tyr | Mount Sinai, New York, NY | LP: PM1, PM2, PM5, PP2, PP3 | CKD f/u |
| 7 | M/29/EUR | No | Cystinosis | Fanconi syndrome, renal rickets and corneal crystals in infancy | Not done | Cysteamine Rx, manage disease | ||
| 8 | F/59/EUR | Yes—multiple | Fabry disease | Slit lamp, positive family history | GLA p.Trp204Ter | Mount Sinai, New York, NY | P: PVS1, PM1, PM2, PP3 | CKD f/u |
| 9 | M/54/AFR | Yes—multiple | Fabry disease | Low α-GAL A; positive family history | GLA p.Trp340Ter | Mount Sinai, New York, NY | P: PVS1, PM1, PM2, PP3 | CKD f/u |
| 10 | M/47/EUR | Yes—multiple | Fabry disease | Low α-GAL A; positive family history | GLA p.Ala29GlyfsTer2 | Mount Sinai, New York, NY | P; PVS1, PM1, PM2, PP3 | CKD f/u |
| 11 | F/27/EUR | Yes—sister | Cystinosis | Bone marrow biopsy positive for cystine crystals | Not done | Cysteamine Rx | ||
| 19 | F/23/EUR | No | Tuberous sclerosis | Clinical criteria | Not done | Manage renal AMLs | ||
| 26 | F/32/EUR | No | Tuberous sclerosis + TMA in pregnancy | TSC: clinical criteria | TSC 1c.1029+3A>G; PLG p.Thr200Ala | CHG, Cambridge, MA; MORL (Genetic Renal Panel), Iowa City, IA | VUS: PM2, PP3, PP5; VUS: PP3 | Manage tuberous sclerosis |
| 27 | M/18/EUR | Yes—multiple | Fabry disease | Kidney biopsy | GLA p.Cys63Arg | Mount Sinai, New York, NY | LP: PM1, PM2, PM5, PP2, PP3 | CKD f/u |
| 28 | M/34/EUR | No | Fabry disease | Symptoms; positive family history | GLA p.Gly260Glu | Mount Sinai, New York, NY | LP: PM1, PM2, PM5, PP2, PP3 | CKD f/u |
| 31 | M/24/EUR | No | Unilateral renal aplasia | Antenatal and postnatal imaging | Not done | CAKUT f/u | ||
| 37 | M/59/EUR | Yes—multiple | Suspected Fabry, no manifestation | Low α-GAL A; positive family history | GLA p.Ala143Thr | Mount Sinai, New York, NY | LP: PM1, PM5, PP2, PP3, PP5 | Referred for renal biopsy |
| 62 | F/79/EUR | Yes—multiple | Familial hypocalciuric hypercalcemia | Hypercalcemia, positive family history | CaSR p.Pro55Leu | Mayo Medical Lab, Rochester, MN | LP: PM1, PM2, PP2, PP3, PP4, PP5 | Post-test genetic counseling |
| 66 | F/34/EUR | Yes—sister | aHUS | TMA, genetic screening | CFH p.Leu1189Argfs*2 | 4 | P: PVS1, PM2, PP3 | aHUS post-transplant f/u |
| 67 | M/30/EUR | No | None | Asymptomatic | Negative for NPHP1 variant | IIHG (Kidneyseq™), Iowa City, IA | Preconception-counseling, spouse with NPHP1 deletion | |
| 74 | F/40/EUR | No | aHUS | TMA, genetic screening | CFI p.Tyr369Ser | MORL (Genetic Renal Panel), Iowa City, IA | LP: PM1, PM2, PP3, PP5 | aHUS post-transplant f/u |
| 75 | F/38/EUR | No | aHUS | TMA, genetic screening | CFH p.Glu625Ter | MORL (Genetic Renal Panel), Iowa City, IA | P: PVS1, PM2, PP3 | aHUS post-transplant f/u |
Genetic screening in these patients was performed prior to referral.
ACMG American College of Medical Genetics and Genomics, ADPKD autosomal dominant polycystic kidney disease, AFR African/African American, aHUS atypical hemolytic uremic syndrome, AML angiomyolipoma, CAKUT congenital anomalies of kidney and urinary tract, CHG Center for Human Genetics, CKD chronic kidney disease, EUR Caucasian, f/u follow up, FH family history, IIHG Iowa Institute of Human Genetics, LP likely pathogenic, MORL Molecular Otolaryngology and Renal Research Laboratories, P pathogenic, TMA thrombotic microangiopathy, TSC tuberous sclerosis, VUR vesicoureteric reflux, VUS variant of unknown significance, α-GAL A α-galactosidase A.