Two different 5' splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency

Missarelli, C.; Herrera L.; Carvallo, P.; Mericq V.

Keywords: sequence, disorder, growth, dna, hormone, animals, cells, cell, chain, deficiency, mutation, humans, human, male, strain, polymerase, adult, female, pedigree, dominant, rna, molecular, infant, article, child, precursor, base, primers, point, transfection, controlled, intron, animal, study, introns, priority, Reaction, nonhuman, journal, Animalia, Messenger, case, Genes,, report, Cloning,, Heterozygote, autosomal, splicing, cos1, COS

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.

Más información

Título de la Revista: HUMAN GENETICS
Volumen: 101
Número: 1
Editorial: Springer
Fecha de publicación: 1997
Página de inicio: 113
Página final: 117
URL: http://www.scopus.com/inward/record.url?eid=2-s2.0-0031468346&partnerID=q2rCbXpz