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[Clinical symptoms, diagnosis and treatment of multiple endocrine neoplasia type 1. Results of genetic screening in Hungarian patients].
Orv Hetil. 2005 Oct 23; 146(43):2191-7.OH

Abstract

Multiple endocrine neoplasia type 1 syndrome is an autosomal dominant disorder characterized by endocrinopathies involving the parathyroid glands, anterior pituitary gland, and pancreas. Also, it may be associated with foregut carcinoid, adrenocortical tumors and non-endocrine tumors. After reviewing the prevalence, genetic background, clinical symptoms, diagnosis and treatment of the disorder, the authors present their genetic screening method used for the detection of mutations of the MEN1 gene (prescreening of polymerase chain reaction amplified exons using temporal temperature gradient gel electrophoresis followed by direct DNA sequencing). Using this method, the authors identified disease-causing MEN1 gene mutations in 9 probands (small deletions in 2 cases, insertion in 2 cases, nonsense mutations in 2 cases and missense mutations in 3 cases). Of the 9 mutations, 4 proved to be novel mutation not reported in the literature. Family screening indicated de novo mutations in 2 probands. In addition to mutations, several sequence polymorphisms were also detected. The authors conclude that one of the major advantages of genetic screening in families with MEN1 syndrome was the identification of family members carrying the mutation who should be regularly screened for disease manifestations and those not carrying the mutation in whom clinical screening is unnecessary. Also, genetic screening may be useful in cases when MEN1 syndrome is suspected, but the clinical manifestations do not fully establish the diagnosis of MEN1 syndrome.

Authors+Show Affiliations

Semmelweis Egyetem, Altalános Orvostudományi Kar, II. Sz. Belgyógyászati Klinika, Budapest. balogh@bel2.sote.huNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

hun

PubMed ID

16323565

Citation

Balogh, Katalin, et al. "[Clinical Symptoms, Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 1. Results of Genetic Screening in Hungarian Patients]." Orvosi Hetilap, vol. 146, no. 43, 2005, pp. 2191-7.
Balogh K, Hunyady L, Patócs A, et al. [Clinical symptoms, diagnosis and treatment of multiple endocrine neoplasia type 1. Results of genetic screening in Hungarian patients]. Orv Hetil. 2005;146(43):2191-7.
Balogh, K., Hunyady, L., Patócs, A., Valkusz, Z., Bertalan, R., Gergics, P., Majnik, J., Toke, J., Tóth, M., Szucs, N., Gláz, E., Futo, L., Horányi, J., Rácz, K., & Tulassay, Z. (2005). [Clinical symptoms, diagnosis and treatment of multiple endocrine neoplasia type 1. Results of genetic screening in Hungarian patients]. Orvosi Hetilap, 146(43), 2191-7.
Balogh K, et al. [Clinical Symptoms, Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 1. Results of Genetic Screening in Hungarian Patients]. Orv Hetil. 2005 Oct 23;146(43):2191-7. PubMed PMID: 16323565.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinical symptoms, diagnosis and treatment of multiple endocrine neoplasia type 1. Results of genetic screening in Hungarian patients]. AU - Balogh,Katalin, AU - Hunyady,László, AU - Patócs,Attila, AU - Valkusz,Zsuzsanna, AU - Bertalan,Rita, AU - Gergics,Péter, AU - Majnik,Judit, AU - Toke,Judit, AU - Tóth,Miklós, AU - Szucs,Nikolette, AU - Gláz,Edit, AU - Futo,László, AU - Horányi,János, AU - Rácz,Károly, AU - Tulassay,Zsolt, PY - 2005/12/6/pubmed PY - 2006/2/4/medline PY - 2005/12/6/entrez SP - 2191 EP - 7 JF - Orvosi hetilap JO - Orv Hetil VL - 146 IS - 43 N2 - Multiple endocrine neoplasia type 1 syndrome is an autosomal dominant disorder characterized by endocrinopathies involving the parathyroid glands, anterior pituitary gland, and pancreas. Also, it may be associated with foregut carcinoid, adrenocortical tumors and non-endocrine tumors. After reviewing the prevalence, genetic background, clinical symptoms, diagnosis and treatment of the disorder, the authors present their genetic screening method used for the detection of mutations of the MEN1 gene (prescreening of polymerase chain reaction amplified exons using temporal temperature gradient gel electrophoresis followed by direct DNA sequencing). Using this method, the authors identified disease-causing MEN1 gene mutations in 9 probands (small deletions in 2 cases, insertion in 2 cases, nonsense mutations in 2 cases and missense mutations in 3 cases). Of the 9 mutations, 4 proved to be novel mutation not reported in the literature. Family screening indicated de novo mutations in 2 probands. In addition to mutations, several sequence polymorphisms were also detected. The authors conclude that one of the major advantages of genetic screening in families with MEN1 syndrome was the identification of family members carrying the mutation who should be regularly screened for disease manifestations and those not carrying the mutation in whom clinical screening is unnecessary. Also, genetic screening may be useful in cases when MEN1 syndrome is suspected, but the clinical manifestations do not fully establish the diagnosis of MEN1 syndrome. SN - 0030-6002 UR - https://www.unboundmedicine.com/medline/citation/16323565/[Clinical_symptoms_diagnosis_and_treatment_of_multiple_endocrine_neoplasia_type_1__Results_of_genetic_screening_in_Hungarian_patients]_ L2 - http://www.diseaseinfosearch.org/result/4954 DB - PRIME DP - Unbound Medicine ER -