Abstract
Variants in the LMX1B gene cause nail-patella syndrome, a rare autosomal dominant disorder characterized by dysplasia of nails, patella and elbow abnormalities, iliac “horns,” and glaucoma. We describe an adult man with nephrotic syndrome and no systemic manifestations of nail-patella syndrome at the time of his initial kidney biopsy. His kidney biopsy was initially interpreted as a form of segmental sclerosis with unusual fibrillar deposits. At the time of consideration for kidney transplantation, a family history was notable for end-stage renal disease in 3 generations. Subsequent reanalysis of the initial biopsy showed infiltration of the lamina densa by type III collagen fibrils, and molecular studies identified a pathogenic variant in one allele of LMX1B (a guanine to adenine substitution at nucleoide 737 of the coding sequence [c.737G>A], predicted to result in an arginine to glutamine substitution at amino acid 246 [p.Arg246Gln]). This variant has been described previously in multiple unrelated families who presented with autosomal dominant nephropathy without nail and patellar abnormalities.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 296-301 |
| Number of pages | 6 |
| Journal | American Journal of Kidney Diseases |
| Volume | 72 |
| Issue number | 2 |
| DOIs | |
| State | Published - Aug 1 2018 |
| Externally published | Yes |
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Keywords
- focal segmental glomerulosclerosis (FSGS)
- hereditary FSGS
- kidney biopsy
- LMX1B
- LMX1B-associated nephropathy
- nail-patella syndrome
- nephrotic syndrome
- next-generation sequencing
- renal-limited
- type III collagen
ASJC Scopus subject areas
- Nephrology
Cite this
LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes. / Andeen, Nicole; Schleit, Jennifer; Blosser, Christopher D.; Dorschner, Michael O.; Hisama, Fuki Marie; Smith, Kelly D.
In: American Journal of Kidney Diseases, Vol. 72, No. 2, 01.08.2018, p. 296-301.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes
AU - Andeen, Nicole
AU - Schleit, Jennifer
AU - Blosser, Christopher D.
AU - Dorschner, Michael O.
AU - Hisama, Fuki Marie
AU - Smith, Kelly D.
PY - 2018/8/1
Y1 - 2018/8/1
N2 - Variants in the LMX1B gene cause nail-patella syndrome, a rare autosomal dominant disorder characterized by dysplasia of nails, patella and elbow abnormalities, iliac “horns,” and glaucoma. We describe an adult man with nephrotic syndrome and no systemic manifestations of nail-patella syndrome at the time of his initial kidney biopsy. His kidney biopsy was initially interpreted as a form of segmental sclerosis with unusual fibrillar deposits. At the time of consideration for kidney transplantation, a family history was notable for end-stage renal disease in 3 generations. Subsequent reanalysis of the initial biopsy showed infiltration of the lamina densa by type III collagen fibrils, and molecular studies identified a pathogenic variant in one allele of LMX1B (a guanine to adenine substitution at nucleoide 737 of the coding sequence [c.737G>A], predicted to result in an arginine to glutamine substitution at amino acid 246 [p.Arg246Gln]). This variant has been described previously in multiple unrelated families who presented with autosomal dominant nephropathy without nail and patellar abnormalities.
AB - Variants in the LMX1B gene cause nail-patella syndrome, a rare autosomal dominant disorder characterized by dysplasia of nails, patella and elbow abnormalities, iliac “horns,” and glaucoma. We describe an adult man with nephrotic syndrome and no systemic manifestations of nail-patella syndrome at the time of his initial kidney biopsy. His kidney biopsy was initially interpreted as a form of segmental sclerosis with unusual fibrillar deposits. At the time of consideration for kidney transplantation, a family history was notable for end-stage renal disease in 3 generations. Subsequent reanalysis of the initial biopsy showed infiltration of the lamina densa by type III collagen fibrils, and molecular studies identified a pathogenic variant in one allele of LMX1B (a guanine to adenine substitution at nucleoide 737 of the coding sequence [c.737G>A], predicted to result in an arginine to glutamine substitution at amino acid 246 [p.Arg246Gln]). This variant has been described previously in multiple unrelated families who presented with autosomal dominant nephropathy without nail and patellar abnormalities.
KW - focal segmental glomerulosclerosis (FSGS)
KW - hereditary FSGS
KW - kidney biopsy
KW - LMX1B
KW - LMX1B-associated nephropathy
KW - nail-patella syndrome
KW - nephrotic syndrome
KW - next-generation sequencing
KW - renal-limited
KW - type III collagen
UR - http://www.scopus.com/inward/record.url?scp=85037745975&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85037745975&partnerID=8YFLogxK
U2 - 10.1053/j.ajkd.2017.09.023
DO - 10.1053/j.ajkd.2017.09.023
M3 - Article
AN - SCOPUS:85037745975
VL - 72
SP - 296
EP - 301
JO - American Journal of Kidney Diseases
JF - American Journal of Kidney Diseases
SN - 0272-6386
IS - 2
ER -