PMID- 32897224
OWN - NLM
STAT- MEDLINE
DCOM- 20211013
LR  - 20211013
IS  - 2148-5607 (Electronic)
IS  - 1300-4948 (Print)
IS  - 1300-4948 (Linking)
VI  - 31
IP  - 7
DP  - 2020 Jul
TI  - A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome 
      carrying a rare mutation: c.1680_1683 del TGAG.
PG  - 508-514
LID - 10.5152/tjg.2020.19830 [doi]
AB  - BACKGROUND AND AIMS: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal 
      dominant syndrome characterized by tumors arising from endocrine glands with no 
      specific genotype-phenotype correlation. Herein, we report the largest Turkish 
      kindred with MEN1 inherited a scarce MEN1 mutation gene. MATERIALS AND METHODS: 
      Sixty-four year-old man, referred to our gastroenterology outpatient clinic for 
      evaluation of pancreatic mass lesion, was diagnosed with MEN1-syndrome after 
      endoscopic ultrasound guided sampling of the mass revealing pancreatic 
      neuroendocrine tumor (pNET), and accompanying primary hyperparathyroidism (PHPT) 
      and pituitary tumor. Genetic analysis by whole gene Sanger sequencing of MEN1 
      gene identified a frame-shift mutation in exon 10 (c.1680_1683delTGAG). All the 
      relatives of the index case were proposed for clinical and genetic evaluation for 
      MEN1-syndrome. RESULTS: Of the 25 relatives of the index case, 17 were diagnosed 
      MEN1-syndrome. Eighteen members among all relatives consented to genetic analysis 
      and 11 had the same mutation as the index case. All the mutation positive members 
      had MEN1, while none of mutation negative subjects had any sign of MEN1-syndrome. 
      The frequencies of PHPT, pNET and pituitary tumors in this kindred were 94.1% 
      (16/17), 29.4% (5/17) and 29.4% (5/17) respectively. CONCLUSION: We report rare 
      MEN1 gene mutation which was descibed in a single sporadic patient before. It 
      inherited in at least three generations of a large family, which has proven 
      strong dominant effect on MEN1 phenotype. Further researches may be conducted to 
      clarify potential candidacy of this mutation, as a hotspot for MEN1 patients, 
      especially in Turkish population.
FAU - Demirtas, Coskun Ozer
AU  - Demirtas CO
AD  - Department of Gastroenterology, Marmara University School of Medicine, Istanbul, 
      Turkey.
FAU - Ata, Pinar
AU  - Ata P
AD  - Department of Medical Genetics, Marmara University School of Medicine, Istanbul, 
      Turkey.
FAU - Cetin, Ali
AU  - Cetin A
AD  - Department of Internal Medicine, Marmara University School of Medicine, Istanbul, 
      Turkey.
FAU - Turkyilmaz, Ayberk
AU  - Turkyilmaz A
AD  - Department of Medical Genetics, Marmara University School of Medicine, Istanbul, 
      Turkey.
FAU - Duman, Deniz Guney
AU  - Duman DG
AD  - Department of Gastroenterology, Marmara University School of Medicine, Istanbul, 
      Turkey.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Turkey
TA  - Turk J Gastroenterol
JT  - The Turkish journal of gastroenterology : the official journal of Turkish Society 
      of Gastroenterology
JID - 9515841
SB  - IM
MH  - Exons
MH  - Frameshift Mutation/*genetics
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genetic Testing
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pedigree
MH  - Phenotype
MH  - Turkey
PMC - PMC7480197
COIS- Conflict of Interest: The authors have no conflict of interest to declare.
EDAT- 2020/09/09 06:00
MHDA- 2021/10/14 06:00
PMCR- 2020/07/01
CRDT- 2020/09/08 12:13
PHST- 2020/09/08 12:13 [entrez]
PHST- 2020/09/09 06:00 [pubmed]
PHST- 2021/10/14 06:00 [medline]
PHST- 2020/07/01 00:00 [pmc-release]
AID - tjg-31-7-508 [pii]
AID - 10.5152/tjg.2020.19830 [doi]
PST - ppublish
SO  - Turk J Gastroenterol. 2020 Jul;31(7):508-514. doi: 10.5152/tjg.2020.19830.