Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome

F. Anglani; L. Terrin; M. Brugnara; M. Battista; V. Cantaluppi; M. Ceol; L. Bertoldi; G. Valle; M. P. Joy; B. R. Pober; M. Longoni

doi:10.1111/cge.13242

Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome

F. Anglani, L. Terrin, M. Brugnara, M. Battista, V. Cantaluppi, M. Ceol, L. Bertoldi, G. Valle, M. P. Joy, B. R. Pober, M. Longoni

Dipartimento di Medicina Traslazionale

Risultato della ricerca: Contributo su rivista › Lettera › peer review

Abstract

Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai-Barrow/facio-oculo-acustico-renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions.

Lingua originale	Inglese
pagine (da-a)	187-188
Numero di pagine	2
Rivista	Clinical Genetics
Volume	94
Numero di pubblicazione	1
DOI	https://doi.org/10.1111/cge.13242
Stato di pubblicazione	Pubblicato - lug 2018

Accesso al documento

10.1111/cge.13242

Altri file e collegamenti

Link to publication in Scopus

Cita questo

@article{807e7cdab4a24f5789e4ccfc487f18a9,

title = "Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome",

abstract = "Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai-Barrow/facio-oculo-acustico-renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions.",

author = "F. Anglani and L. Terrin and M. Brugnara and M. Battista and V. Cantaluppi and M. Ceol and L. Bertoldi and G. Valle and Joy, {M. P.} and Pober, {B. R.} and M. Longoni",

note = "Funding Information: This work was supported by the University of Padua, Project BIOINFOGEN prot. STPD11F33L and by US NICHD P01HD068250. Funding Information: This work was supported by the University of Padua, Project BIOIN-",

year = "2018",

month = jul,

doi = "10.1111/cge.13242",

language = "English",

volume = "94",

pages = "187--188",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "1",

}

TY - JOUR

T1 - Hypercalciuria and nephrolithiasis

T2 - Expanding the renal phenotype of Donnai-Barrow syndrome

AU - Anglani, F.

AU - Terrin, L.

AU - Brugnara, M.

AU - Battista, M.

AU - Cantaluppi, V.

AU - Ceol, M.

AU - Bertoldi, L.

AU - Valle, G.

AU - Joy, M. P.

AU - Pober, B. R.

AU - Longoni, M.

N1 - Funding Information: This work was supported by the University of Padua, Project BIOINFOGEN prot. STPD11F33L and by US NICHD P01HD068250. Funding Information: This work was supported by the University of Padua, Project BIOIN-

PY - 2018/7

Y1 - 2018/7

N2 - Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai-Barrow/facio-oculo-acustico-renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions.

AB - Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai-Barrow/facio-oculo-acustico-renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions.

UR - http://www.scopus.com/inward/record.url?scp=85043709149&partnerID=8YFLogxK

U2 - 10.1111/cge.13242

DO - 10.1111/cge.13242

M3 - Letter

SN - 0009-9163

VL - 94

SP - 187

EP - 188

JO - Clinical Genetics

JF - Clinical Genetics

IS - 1

ER -

Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome

Abstract

Accesso al documento

Altri file e collegamenti

Fingerprint

Cita questo