Classical phenotype of Laron syndrome in a girl with a heterozygous mutation and heterozygous polymorphism of the growth hormone receptor gene.
| Title | Classical phenotype of Laron syndrome in a girl with a heterozygous mutation and heterozygous polymorphism of the growth hormone receptor gene. |
| Publication Type | Journal Article |
| Year of Publication | 2004 |
| Authors | Shevah, O., Galli-Tsinopoulou A., Rubinstein M., Nousia-Arvanitakis S., & Laron Z. |
| Journal | J Pediatr Endocrinol Metab |
| Volume | 17 |
| Issue | 3 |
| Pagination | 371-4 |
| Date Published | 2004 Mar |
| ISSN | 0334-018X |
| Keywords | Exons, Failure to Thrive, Female, Genetic Carrier Screening, Genetic Testing, Heterozygote, Humans, Infant, Mutation, Phenotype, Polymorphism, Genetic, Receptors, Somatotropin, Sequence Analysis, DNA |
| Abstract | We describe here a 19 month-old girl with classical Laron syndrome (LS). Molecular analysis of the GH receptor gene in the patient and her parents was performed. The patient was found to be heterozygous for a mutation in exon 4 (R43X) and heterozygous for a polymorphism in exon 6 (Gly168Gly). Her mother was also heterozygous for R43X but homozygous for the polymorphism. In the father, a heterozygous polymorphism was found. Contrary to previous assumptions that only homozygous patients express the typical phenotype, this patient shows all the classical features of LS, despite being a heterozygote for a pathological defect. |
| DOI | 10.1515/jpem.2004.17.3.371 |
| Alternate Journal | J Pediatr Endocrinol Metab |
| PubMed ID | 15112915 |
