Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Mar;48(3):300060519896146.
doi: 10.1177/0300060519896146.

Heterozygous mutation of SLC34A1 in patients with hypophosphatemic kidney stones and osteoporosis: a case report

Yuping Ma  1 , Haihong Lv  1 , Jue Wang  1 , Jiaojiao Tan  1
Affiliations
Case Reports

Heterozygous mutation of SLC34A1 in patients with hypophosphatemic kidney stones and osteoporosis: a case report

Yuping Ma et al. J Int Med Res. 2020 Mar.

Abstract

Hypophosphatemic kidney stones with osteoporosis is a rare disease clinically. Mutations in the solute carrier family 34 member 1 gene (SLC34A1), encoding NaPi-IIa, are considered to be associated with this disease. In this report, a 38-year-old Chinese woman was diagnosed with hypophosphatemic kidney stones with osteoporosis. Her clinical features were recorded, and biochemical tests and DNA sequencing were performed of the proband and her parents. Sequencing revealed that she inherited the c.1753T>C SLC34A1 mutation from her mother. This mutation in exon 13 of SLC34A1 causes a substitution of serine with proline (p. S585P) at position 585 of NaPi-IIa. This is a novel mutation that has not previously been reported, and which shows autosomal dominant inheritance. It is expected to lead to changes in protein function, and we believe that it is the cause of pathology in our patient.

Keywords: DNA sequencing; NaPi-IIa; SLC34A1; hypophosphatemic kidney stones; osteoporosis; point mutation.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
(a) Proband mutation site (c.1753 T>C) in exon 13 of SLC34A1. (b) Mutation sites in the mother of the proband (c.1753 T>C). (c) Sequencing of the father of the proband showing wild-type sequence (c.1753 T).
Figure 2.
Figure 2.
The mutated amino acid at position 585 (red arrow) is located inside the structural domain of the Phosphate:Na+ Symporter Family of proteins according to NCBI/Structure/Cdd.
Figure 3.
Figure 3.
(a) Whole body bone scan emission computed tomography of the patient. (b) Lumbar spine digital radiography of the patient. (c) Pelvis digital radiography of the patient.
See this image and copyright information in PMC

References

    1. Michigami T, Kawai M, Yamazaki M, et al. Phosphate as a signaling molecule and its sensing mechanism. Physiol Rev 2018; 98: 2317–2348. - PubMed
    1. Segawa H, Kaneko I, Takahashi A, et al. Growth-related renal type II Na/Pi cotransporter. J Biol Chem 2002; 277: 19665–19672. - PubMed
    1. Glorieux FH, Scriver CR, Reade TM, et al. Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. New Eng J Med 1972; 287: 481–487. - PubMed
    1. Katakami H, Kato Y, Inada M, et al. Hypothalamic hypothyroidism due to isolated thyrotropin-releasing hormone (TRH) deficiency. J Endocrinol Invest 1984; 7: 231–233. - PubMed
    1. Lim YH, Ovejero D, Sugarman JS, et al. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Hum Molec Genet 2014; 23: 145–151. - PMC - PubMed

Publication types

MeSH terms

Substances