Description:
GROWTH HORMONE INSENSITIVITY SYNDROME
GROWTH HORMONE RECEPTOR; GHR
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Black/African American
|
|
Ethnicity
|
SOUTH AFRICAN
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
GHR |
| Chromosomal Location |
5p13-p12 |
| Allelic Variant 1 |
600946.0013; LARON SYNDROME |
| Identified Mutation |
2-BP DEL, FS234TER; In a South African patient with Laron syndrome and nonconsanguineous parents, Berg et al. (1993) found homozygosity for deletion of either TA or AT at codon 230 in exon 7 of the GHR gene.
|
| |
| Gene |
GHR |
| Chromosomal Location |
5p13-p12 |
| Allelic Variant 2 |
600946.0013; LARON SYNDROME |
| Identified Mutation |
2-BP DEL, FS234TER; In a South African patient with Laron syndrome and nonconsanguineous parents, Berg et al. (1993) found homozygosity for deletion of either TA or AT at codon 230 in exon 7 of the GHR gene.
|
| Remarks |
Clinically affected; height 74.4 cm; random growth hormone level was 34; IGF-I level was less than 10 (normal 70-288); IGF-II level was 16 (normal 334-642); IGFBP3 level was 0.11 (normal 1.5-3.4); GHBP activity was 5.2% of normal; donor subject is presumed homozygous for a 2 bp deletion involving codon 230 in exon 7 of the GHR gene (either TA or AT) causing a frameshift and an in-frame stop codon 4 codons downstream [fs234Ter]; homozygosity could not be confirmed due to the unavailability of parental samples. |
| Berg MA, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Pérez-Jurado L, Rosenbloom A, Toledo SP, Francke U, Diverse growth hormone receptor gene mutations in Laron syndrome American journal of human genetics52:998-1005 1993 |
| PubMed ID: 8488849 |
|
|