PMID- 27430871
OWN - NLM
STAT- MEDLINE
DCOM- 20170406
LR  - 20170406
IS  - 1791-3004 (Electronic)
IS  - 1791-2997 (Linking)
VI  - 14
IP  - 3
DP  - 2016 Sep
TI  - A novel in-frame deletion in MEN1 (p.Ala416del) causes familial multiple 
      endocrine neoplasia type 1 with an aggressive phenotype and unexpected 
      inheritance pattern.
PG  - 2061-6
LID - 10.3892/mmr.2016.5462 [doi]
AB  - The present study describes a family with multiple endocrine neoplasia type 1 
      (MEN1) caused by a previously undescribed in-frame deletion c.1246_1248delGCC 
      (Ala416del) in the MEN1 gene. Evidence for the pathogenic character of this 
      mutation, which triggers an aggressive clinical outcome, is demonstrated. 
      Aggregation analysis in the tested family was strongly suggestive of causality of 
      the detected mutation. This was supported by the analysis of LOH (loss of 
      heterozygosity) in tumor-derived DNA and by computational analysis of the 
      functional and structural implications of the mutation. Different phenotypic 
      characteristics were identified among family members, which is typical for MEN1. 
      Additionally, an unexpected disease inheritance pattern was observed in this 
      kindred, in which either all or none of the siblings of one branch inherited the 
      disease.
FAU - Skalniak, Anna
AU  - Skalniak A
AD  - Department of Endocrinology, Jagiellonian University Medical College, 31‑501 
      Krakow, Poland.
FAU - Sokolowski, Grzegorz
AU  - Sokolowski G
AD  - Endocrinology Clinic, University Hospital, 31‑501 Krakow, Poland.
FAU - Jabrocka-Hybel, Agata
AU  - Jabrocka-Hybel A
AD  - Department of Endocrinology, Jagiellonian University Medical College, 31‑501 
      Krakow, Poland.
FAU - Piatkowski, Jakub
AU  - Piatkowski J
AD  - Department of Endocrinology, Jagiellonian University Medical College, 31‑501 
      Krakow, Poland.
FAU - Bialas, Magdalena
AU  - Bialas M
AD  - Department of Pathomorphology, Jagiellonian University Medical College, 31‑501 
      Krakow, Poland.
FAU - Gilis-Januszewska, Aleksandra
AU  - Gilis-Januszewska A
AD  - Department of Endocrinology, Jagiellonian University Medical College, 31‑501 
      Krakow, Poland.
FAU - Pach, Dorota
AU  - Pach D
AD  - Department of Endocrinology, Jagiellonian University Medical College, 31‑501 
      Krakow, Poland.
FAU - Hubalewska-Dydejczyk, Alicja
AU  - Hubalewska-Dydejczyk A
AD  - Department of Endocrinology, Jagiellonian University Medical College, 31‑501 
      Krakow, Poland.
LA  - eng
PT  - Journal Article
DEP - 20160701
PL  - Greece
TA  - Mol Med Rep
JT  - Molecular medicine reports
JID - 101475259
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Exons
MH  - Female
MH  - Genotype
MH  - Humans
MH  - *Inheritance Patterns
MH  - Loss of Heterozygosity
MH  - Male
MH  - Models, Molecular
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/*genetics/mortality
MH  - Pedigree
MH  - *Phenotype
MH  - Protein Conformation
MH  - Proto-Oncogene Proteins/chemistry/*genetics
MH  - *Reading Frames
MH  - *Sequence Deletion
MH  - Young Adult
EDAT- 2016/07/20 06:00
MHDA- 2017/04/07 06:00
CRDT- 2016/07/20 06:00
PHST- 2015/09/16 00:00 [received]
PHST- 2016/02/15 00:00 [accepted]
PHST- 2016/07/20 06:00 [entrez]
PHST- 2016/07/20 06:00 [pubmed]
PHST- 2017/04/07 06:00 [medline]
AID - 10.3892/mmr.2016.5462 [doi]
PST - ppublish
SO  - Mol Med Rep. 2016 Sep;14(3):2061-6. doi: 10.3892/mmr.2016.5462. Epub 2016 Jul 1.