title: A case of isolated growth hormone (GH) deficiency with compound heterozygous abnormality at the GH-1 gene locus.
abstract: We report a Japanese boy with IGHD who is a compound heterozygote at the GH-1 gene locus. The patient and his mother were heterozygous for a 6.7 kb deletion of the GH-1 gene. A T-->C transition at position -123, an A-->G transition at position -6 and an A-->T transition at position -1 in the GH-1 promoter region and the addition of AGAA at base 250 in intron I were observed in one allele of the patient and his father. These results demonstrate that familial IGHD is a heterogeneous disease that perturbs different steps in the expression of the GH-1 gene.
authors.affiliation: Department of Pediatrics, Hiroshima Red Cross Hospital, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Nishi
authors.forename: M
authors.initials: M
authors.lastname: Ogawa
authors.forename: T
authors.initials: T
authors.lastname: Kamijo
authors.forename: Y
authors.initials: Y
authors.lastname: Igarashi
authors.forename: N
authors.initials: N
authors.lastname: Iwatani
authors.forename: H
authors.initials: H
authors.lastname: Kohno
authors.forename: T
authors.initials: T
authors.lastname: Masumura
authors.forename: Y
authors.initials: Y
authors.lastname: Byun
authors.forename: J
authors.initials: J
authors.lastname: Koga
mesh_terms: D001483:Base Sequence; D002648:Child; D004247:DNA / Q000737:chemistry; D017353:Gene Deletion; D006579:Heterozygote; D019382:Human Growth Hormone / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D019382:Human Growth Hormone; D004247:DNA