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First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.
- Source :
-
Calcified tissue international [Calcif Tissue Int] 2015 Apr; Vol. 96 (4), pp. 265-73. Date of Electronic Publication: 2015 Jan 04. - Publication Year :
- 2015
-
Abstract
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive disorder caused by mutations in the CLDN16 or CLDN19 genes, encoding claudin-16 and claudin-19 in the thick ascending limb of Henle's loop. In patients with claudin-19 mutations, severe ocular involvement (macular coloboma, pigmentary retinitis, nystagmus, or visual loss) has been described. In this report, we presented a 12-year-old girl with rickets, polyuria, and polydipsia. She was the daughter of consanguineous parents, and she had a history of recurred hypocalcemic and hypomagnesemic tetany. On physical examination, bilateral horizontal nystagmus and severe myopia were detected. Laboratory examination revealed hypomagnesemia, hypocalcemia, hypercalciuria, nephrocalcinosis, and renal stone. A clinical diagnosis of FHHNC caused possibly by claudin-19 mutation was decided with the ocular findings. DNA analysis revealed a novel homozygous missense mutation c.241C>T in the CLDN19 gene. In conclusion, in a patient with hypomagnesemia, hypercalciuria, nephrocalcinosis, and ocular findings, a diagnosis of FHHNC caused by claudin-19 mutation should be considered. This is the first study of FHHNC in Chinese population. Our findings of the novel mutation c.241C>T in exon 2 add to the list of more than 16 mutations of CLDN19 gene reported.
- Subjects :
- Amino Acid Sequence
Child
China
Consanguinity
DNA Mutational Analysis
Exons
Female
Humans
Magnesium Deficiency genetics
Molecular Sequence Data
Polydipsia genetics
Polyuria genetics
Rickets genetics
Sequence Homology, Amino Acid
Claudins genetics
Hypercalciuria genetics
Hypocalcemia genetics
Magnesium Deficiency congenital
Mutation, Missense
Nephrocalcinosis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1432-0827
- Volume :
- 96
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Calcified tissue international
- Publication Type :
- Academic Journal
- Accession number :
- 25555744
- Full Text :
- https://doi.org/10.1007/s00223-014-9951-7