Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.
Publication year
2010Source
Journal of Clinical Endocrinology and Metabolism, 95, 11, (2010), pp. E363-7ISSN
Annotation
01 november 2010
Publication type
Article / Letter to editor
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Organization
Paediatrics - OUD tm 2017
Medical Psychology
Journal title
Journal of Clinical Endocrinology and Metabolism
Volume
vol. 95
Issue
iss. 11
Page start
p. E363
Page end
p. 7
Subject
IGMD 6: Hormonal regulationAbstract
CONTEXT: Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly, and mental retardation. Heterozygosity for an IGF-I defect may modestly decrease height and head circumference. OBJECTIVE: The objective of the study was to investigate the clinical features of heterozygous carriers of a novel mutation in the IGF1 gene in comparison with noncarriers in a short family and to establish the effect of human GH treatment. SUBJECTS: Two children, their mother, and their maternal grandfather carried the mutation and were compared with two relatives who were noncarriers. RESULTS: The two index cases had severe short stature (height sd score -4.1 and -4.6), microcephaly, and low IGF-I levels. Sequencing of IGF1 revealed a heterozygous duplication of four nucleotides, resulting in a frame shift and a premature termination codon. The mother and maternal grandfather had the same IGF1 mutation. Adult height (corrected for shrinking and secular trend) and head circumference sd score of carriers of the paternally transmitted mutation was -2.5 and -1.8, in comparison with -1.6 and 0.3 in noncarriers, respectively. After 2 yr of GH treatment, both index cases exhibited increased growth. CONCLUSIONS: Heterozygosity for this novel IGF1 mutation in children born from a mother with the same mutation, presumably in combination with other genetic factors for short stature, leads to severe short stature, which can be successfully treated with GH.
This item appears in the following Collection(s)
- Academic publications [238441]
- Faculty of Medical Sciences [90373]
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