title: Two different 5' splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency.
abstract: Four distinct types of isolated growth hormone deficiency (IGHD) have been described to date. Of these IGHD type II has been defined as having a dominant mode of inheritance. We performed a molecular genetic analysis of two patients clinically characterized as IGHD type II. One of the patients and her father shared a heterozygous G-A transition in the first 5' donor splice site of intron III. The second father and daughter studied also showed a heterozygous G-A transition in the fifth base from the 5' donor splice site in the same intron. Both mutations altered the correct splicing of the growth hormone pre-mRNA when the corresponding genes were expressed in COS-7 cells. We propose that both inherited mutations are responsible for IGHD type II in these patients.
authors.affiliation: Departamento de Bioquimica, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: C
authors.initials: C
authors.lastname: Missarelli
authors.forename: L
authors.initials: L
authors.lastname: Herrera
authors.forename: V
authors.initials: V
authors.lastname: Mericq
authors.forename: P
authors.initials: P
authors.lastname: Carvallo
mesh_terms: D000328:Adult; D000818:Animals; D001483:Base Sequence; D019556:COS Cells; D002648:Child; D003001:Cloning, Molecular; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D019382:Human Growth Hormone / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007438:Introns; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics; D014162:Transfection
chemical_list: D017931:DNA Primers; D019382:Human Growth Hormone