The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families.
Nat Genet
; 1(4): 295-300, 1992 Jul.
Article
em En
| MEDLINE
| ID: mdl-1302026
ABSTRACT
Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant syndrome of unknown aetiology characterized by lifelong elevation in serum calcium concentration and low urinary calcium excretion. These features suggest that the causal gene is important for maintenance of extracellular calcium homeostasis by the parathyroid gland and kidney. To identify the chromosomal location of FHH gene(s), we clinically evaluated 114 individuals in four unrelated affected families and performed linkage analyses. The disease gene mapped to the long arm of chromosome 3 in each family (combined maximum multipoint lod score = 20.67). We suggest that this is the predominant FHH locus and anticipate that identification of the FHH gene will improve our understanding of the molecular basis for physiologic and pathologic regulation of calcium.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 3
/
Cálcio
/
Ligação Genética
/
Erros Inatos do Metabolismo dos Metais
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1992
Tipo de documento:
Article