Abstract | PURPOSE: METHODS: Direct sequencing of AIP gene was performed in fourteen members of the family, spanning among three generations. RESULTS: The index case was an 18-year-old woman with gigantism due to an invasive GH-secreting pituitary adenoma and a concomitant tall-cell variant of papillary thyroid carcinoma. A novel germline mutation in the AIP gene (c.685C>T, p.Q229X) was identified in the proband and in two members of her family, who did not present clinical features of acromegaly or other pituitary disorders. Eleven subjects had no mutation in the AIP gene. Two members of the family with clinical features of acromegaly refused either the genetic or the biochemical evaluation. The Q229X mutation was predicted to generate a truncated AIP protein, lacking the last two tetratricopeptide repeat domains and the final C-terminal α-7 helix. CONCLUSIONS: We identified a new AIP germline mutation predicted to produce a truncated AIP protein, lacking its biological properties due to the disruption of the C-terminus binding sites for both the chaperones and the client proteins of AIP.
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Authors | C Urbani, D Russo, F Raggi, M Lombardi, C Sardella, I Scattina, I Lupi, L Manetti, L Tomisti, C Marcocci, E Martino, F Bogazzi |
Journal | Journal of endocrinological investigation
(J Endocrinol Invest)
Vol. 37
Issue 10
Pg. 949-55
(Oct 2014)
ISSN: 1720-8386 [Electronic] Italy |
PMID | 24996936
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Intracellular Signaling Peptides and Proteins
- aryl hydrocarbon receptor-interacting protein
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Topics |
- Adolescent
- Carcinoma
(complications, genetics)
- Carcinoma, Papillary
- Female
- Germ-Line Mutation
(genetics)
- Gigantism
(etiology, genetics)
- Growth Hormone-Secreting Pituitary Adenoma
(genetics)
- Humans
- Intracellular Signaling Peptides and Proteins
(genetics)
- Italy
- Pedigree
- Thyroid Cancer, Papillary
- Thyroid Neoplasms
(complications, genetics)
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