Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism

Endocrinology, Diabetes & Metabolism Case Reports
Syed Ali ImranMárta Korbonits

Abstract

Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy. Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions.Unusual, previously not described AIP variant with loss of the stop codon.Phenocopy may occur in families with a disease-causing germline mutation.

References

May 27, 2006·Science·Outi VierimaaLauri A Aaltonen
Apr 3, 2008·The Journal of Clinical Endocrinology and Metabolism·Chrysanthia A LeontiouMárta Korbonits
Apr 18, 2015·Nucleic Acids Research·Rosa D Hernansaiz-BallesterosJoaquín Dopazo
Jun 2, 2016·Acta Neuropathologica Communications·Donato IacovazzoMárta Korbonits
Jun 3, 2016·The Journal of Clinical Endocrinology and Metabolism·Laura C Hernández-RamírezMárta Korbonits

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Citations

Oct 27, 2018·Nature Reviews. Endocrinology·Albert BeckersAdrian F Daly
Apr 4, 2019·Frontiers in Endocrinology·Mariana Ferreira BizziAntonio Ribeiro-Oliveira

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