Amino acid substitutions in the intracellular part of the growth hormone receptor in a patient with the laron syndrome

Journal Article · Fri Jan 01 04:00:00 EST 1993 · Journal of Clinical Endocrinology and Metabolism; (United States)

DOI:https://doi.org/10.1210/jc.76.1.54· OSTI ID:6555342

Kou, Kou; Lajara, R; Rotwein, P ^[1]

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1. Washington Univ. School of Medicine, St. Louis, MO (United States)

By complementary DNA cloning the authors have identified two amino acid substitutions in the intracellular region of the human GH receptor in a child with growth failure and clinical features of the Laron syndrome. At the second position of codon 422 a G to T transversion changes a cysteine residue to phenylalanine, whereas at the first nucleotide of coden 561 an alteration from C to A leads to the substitution of threonine for proline. Direct analysis of exon 10 of the GH receptor gene showed that both nucleotide substitutions reside on the same chromosome and were inherited from the patient's mother. Evaluation of DNA from 10 additional prospectively recruited children with growth failure and a clinical picture similar to the index case did not reveal any nucleotide alterations in codons 422, 560, or 561. These observations represent the first demonstration of variation within the intracytoplasmic part of the human GH receptor and indicate that mutations occurring at multiple locations within the receptor gene may lead to the same clinical phenotype. 32 refs., 6 figs., 2 tabs.

• OSTI ID: 6555342
• Journal Information: Journal of Clinical Endocrinology and Metabolism; (United States), Journal Name: Journal of Clinical Endocrinology and Metabolism; (United States) Vol. 76:1; ISSN JCEMAZ; ISSN 0021-972X
• Country of Publication: United States
• Language: English

Related Subjects

550200 -- Biochemistry
550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AMINES
AMINO ACIDS
AZOLES
CARBOXYLIC ACIDS
CYSTEINE
DETECTION
DISEASES
DNA SEQUENCING
ENDOCRINE DISEASES
GENE MUTATIONS
HETEROCYCLIC ACIDS
HETEROCYCLIC COMPOUNDS
HORMONES
HYDROXY ACIDS
MEMBRANE PROTEINS
MUTATIONS
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
ORGANIC SULFUR COMPOUNDS
PEPTIDE HORMONES
PHENYLALANINE
PITUITARY HORMONES
PROLINE
PROTEINS
PYRROLES
PYRROLIDINES
RECEPTORS
STH
STRUCTURAL CHEMICAL ANALYSIS
THIOLS
THREONINE