Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq).
Bone Development
Bone and Bones
/ diagnostic imaging
Child, Preschool
Chloride Channels
/ genetics
Female
Genetic Diseases, X-Linked
/ complications
Hemizygote
Humans
Hypercalciuria
/ physiopathology
Hypophosphatemia
/ physiopathology
Isochromosomes
Kidney
/ diagnostic imaging
Mutation
Nephrolithiasis
/ complications
Ovary
/ abnormalities
Proteinuria
/ physiopathology
Turner Syndrome
/ complications
Uterus
/ abnormalities
CLCN5
Dent disease 1
I(X)(q10)
LMWP
Turner syndrome
Journal
BMC nephrology
ISSN: 1471-2369
Titre abrégé: BMC Nephrol
Pays: England
ID NLM: 100967793
Informations de publication
Date de publication:
11 05 2020
11 05 2020
Historique:
received:
27
09
2019
accepted:
22
04
2020
entrez:
13
5
2020
pubmed:
13
5
2020
medline:
10
9
2021
Statut:
epublish
Résumé
Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before. Here we report a 3-year and 11-month old Chinese girl with short stature who had a karyotype of 46,X,i(X)(q10) and a de novo pathogenic variant in the CLCN5 gene on the short arm of X chromosome. Laboratory examinations showed that the patient had LMWP, hypercalciuria, hypophosphatemia, delayed bone age, and genital dysplasia. The combination of i(X)(q10) and CLCN5 mutation causes the deletion of the wild-type CLCN5 allele that results in Dent-1 and TS. To the best of our knowledge, this is the first case that a female CLCN5 mutation hemizygote is diagnosed with Dent-1 and Turner syndrome due to isochromosome X. Also, our case has indicated that the prevalence of the situation may be largely underestimated because of the mild signs of females with Dent-1.
Sections du résumé
BACKGROUND
Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before.
CASE PRESENTATION
Here we report a 3-year and 11-month old Chinese girl with short stature who had a karyotype of 46,X,i(X)(q10) and a de novo pathogenic variant in the CLCN5 gene on the short arm of X chromosome. Laboratory examinations showed that the patient had LMWP, hypercalciuria, hypophosphatemia, delayed bone age, and genital dysplasia.
CONCLUSION
The combination of i(X)(q10) and CLCN5 mutation causes the deletion of the wild-type CLCN5 allele that results in Dent-1 and TS. To the best of our knowledge, this is the first case that a female CLCN5 mutation hemizygote is diagnosed with Dent-1 and Turner syndrome due to isochromosome X. Also, our case has indicated that the prevalence of the situation may be largely underestimated because of the mild signs of females with Dent-1.
Identifiants
pubmed: 32393202
doi: 10.1186/s12882-020-01827-4
pii: 10.1186/s12882-020-01827-4
pmc: PMC7216489
doi:
Substances chimiques
CLC-5 chloride channel
0
Chloride Channels
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
171Subventions
Organisme : National Natural Science Foundation of China
ID : 81470939& 81770710
Pays : International
Organisme : Specialized Research Fund for the Doctoral Program of Higher Education of China (CN)
ID : 20120101110018
Pays : International
Organisme : Natural Science Foundation of Zhejiang Province
ID : LH14H050002&LY15H050001
Pays : International
Organisme : Medicine & Health Technology Innovation Project of Zhejiang Province
ID : 2014KYA123
Pays : International
Références
Genetics. 1967 Oct;57(2):331-46
pubmed: 5584570
Nature. 1996 Feb 1;379(6564):445-9
pubmed: 8559248
Eur J Hum Genet. 2013 Dec;21(12):1396-402
pubmed: 23652377
Hum Genet. 1997 Jun;99(6):761-5
pubmed: 9187669
Hum Genet. 1995 Jun;95(6):607-29
pubmed: 7789944
Fertil Steril. 2012 Oct;98(4):780-6
pubmed: 22884020
Chromosoma. 1974 Jan 29;44(4):361-6
pubmed: 4134866
Semin Reprod Med. 2001 Jun;19(2):147-57
pubmed: 11480912
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
J Am Soc Nephrol. 2004 Jun;15(6):1370-81
pubmed: 15153548
Nephrol Dial Transplant. 2014 Feb;29(2):376-84
pubmed: 24081861
Clin Nephrol. 1985 May;23(5):249-54
pubmed: 4006335
Am J Hum Genet. 2006 Sep;79(3):493-9
pubmed: 16909387
Kidney Int. 1997 Oct;52(4):911-6
pubmed: 9328929
Curr Protoc Hum Genet. 2003 Feb;Chapter 9:Unit9.7
pubmed: 18428349
N Engl J Med. 2004 Sep 16;351(12):1227-38
pubmed: 15371580
J Clin Endocrinol Metab. 2006 Oct;91(10):3897-902
pubmed: 16849410
BMC Bioinformatics. 2009 Mar 06;10:80
pubmed: 19267900
Nephron. 1985;40(3):329-31
pubmed: 4010847
J Hum Genet. 2018 May;63(5):589-595
pubmed: 29459630
J Am Soc Nephrol. 2011 Oct;22(10):1815-20
pubmed: 21903995
Am J Hum Genet. 1996 Jan;58(1):154-60
pubmed: 8554051
J Clin Endocrinol Metab. 2006 Aug;91(8):3002-10
pubmed: 16757526
Nephron. 1995;69(3):242-7
pubmed: 7753256