Új genetikai mutáció a Carney-komplex-betegség magyarországi esetének hátterében

Translated title of the contribution: Novel mutation in a patient with Carney complex

Csaba Halászlaki, I. Takács, A. Patócs, P. Lakatos

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Carney complex is a rare disease inherited in an autosomal dominant manner. It is mostly caused by inactivating mutations of the subunit of protein kinase A. Carney complex is associated with atrial myxoma, nevi or myxomas of the skin, breast tumors and endocrine overactivity. Primary pigmented nodular adrenocortical disease is the specific endocrine manifestation. The authors present the history of a 53-year-old female patient who had undergone surgery for atrial myxomas, thyroid tumor and breast cancer. She was also operated for an adrenal adenoma causing Cushing's syndrome. Genetic study revealed a mutation in the regulatory subunit of protein kinase A (ivs2-1G>A splice mutation in intron 2). Her heterozygous twins were also genetically screened and one of them carried the same mutation. The authors emphasize that despite the absence of specific treatment for patients with Carney complex, confirmation of the diagnosis by genetic studies is important for the close follow-up of the patient and early identification of novel manifestations.

Original languageHungarian
Pages (from-to)802-804
Number of pages3
JournalOrvosi Hetilap
Volume152
Issue number20
DOIs
Publication statusPublished - May 1 2011

Fingerprint

Carney Complex
Myxoma
Mutation
Cyclic AMP-Dependent Protein Kinases
Breast Neoplasms
Cushing Syndrome
Nevus
Rare Diseases
Thyroid Neoplasms
Adenoma
Introns
History
Skin
Neoplasms

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Új genetikai mutáció a Carney-komplex-betegség magyarországi esetének hátterében. / Halászlaki, Csaba; Takács, I.; Patócs, A.; Lakatos, P.

In: Orvosi Hetilap, Vol. 152, No. 20, 01.05.2011, p. 802-804.

Research output: Contribution to journalArticle

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