NM_000388.4(CASR):c.85A>G (p.Lys29Glu) AND Bartter syndrome with hypocalcemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2006
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000054483.4

Allele description [Variation Report for NM_000388.4(CASR):c.85A>G (p.Lys29Glu)]

NM_000388.4(CASR):c.85A>G (p.Lys29Glu)

Gene:

CASR:calcium sensing receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.1

Genomic location:

Preferred name:

NM_000388.4(CASR):c.85A>G (p.Lys29Glu)

HGVS:

NC_000003.12:g.122254274A>G
NG_009058.1:g.75592A>G
NM_000388.4:c.85A>GMANE SELECT
NM_001178065.2:c.85A>G
NP_000379.3:p.Lys29Glu
NP_001171536.2:p.Lys29Glu
NC_000003.11:g.121973121A>G

Protein change:

K29E; LYS29GLU

Links:

OMIM: 601199.0053; dbSNP: rs397514729

Molecular consequence:

NM_000388.4:c.85A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.85A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bartter syndrome with hypocalcemia
Synonyms:: Hypocalcemia, autosomal dominant 1, with bartter syndrome
Identifiers:: MONDO: MONDO:0016983; MedGen: C4552089

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000082960	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2006)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15005845, 17048213

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000082960

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2006)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.

Hu J, Mora S, Weber G, Zamproni I, Proverbio MC, Spiegel AM.

J Bone Miner Res. 2004 Apr;19(4):578-86. Epub 2004 Jan 5.

PubMed [citation]

PMID:: 15005845

Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome.

Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L.

J Nephrol. 2006 Jul-Aug;19(4):525-8.

PubMed [citation]

PMID:: 17048213

Details of each submission

From OMIM, SCV000082960.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In monozygotic twin sisters of Italian origin who presented with severe hypocalcemia in the neonatal period (601198), Hu et al. (2004) identified heterozygosity for a de novo c.85A-G transition in exon 2 of the CASR gene, resulting in a lys29-to-glu (K29E) substitution in the extracellular VFT domain. The mutation was not present in their unaffected parents or older sister. In transfected HEK293 cells, the mutant K29E calcium-sensing receptor showed a marked increase in Ca(2+) sensitivity, including when it was cotransfected with wildtype CASR cDNA, consistent with a dominant effect. In a follow-up study, Vezzoli et al. (2006) reported that the twins developed Bartter syndrome (see 601198)-like features at age 22 years, with mild hypokalemia, mild hyperreninemia and hyperaldosteronism, but no alkalosis.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 27, 2025

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