PMID- 16794369
OWN - NLM
STAT- MEDLINE
DCOM- 20060811
LR  - 20181113
IS  - 0391-4097 (Print)
IS  - 0391-4097 (Linking)
VI  - 29
IP  - 5
DP  - 2006 May
TI  - MEN1 family with a novel frameshift mutation.
PG  - 450-6
AB  - Multiple endocrine neoplasm type 1 (MEN1) syndrome predisposes to the development 
      of endocrine and non-endocrine tumors with an autosomal dominant pattern of 
      inheritance. Different mutations have been found throughout the gene with a 
      variable phenotype expression. The proband, a Caucasian man, was admitted to our 
      department in 2001, at the age of 51 because of a 1-yr history of diarrhoea and 
      hypertension. He reported a previous intestinal resection for bowel occlusion 
      with a histological diagnosis of unspecified mesenchymal neoplasia. He had also 
      undergone a left adrenalectomy for a large nonfunctioning adrenal adenoma. 
      Subsequently, he had suffered from gastralgia and melena; a gastroduodenoscopy 
      showed an erosive gastritis. His family history was negative for endocrine 
      disorders. On physical examination, multiple abdominal cutaneous lipomas and 
      facial angiofibromas were observed. Biochemical screening revealed a primary 
      hyperparathyroidism and an increase in circulating levels of PRL, chromogranin-A, 
      gastrin and glucagon. The whole body computed tomography (CT) scan, the 
      111In-octreotide scan and the pituitary magnetic resonance imaging (MRI) did not 
      reveal any abnormality. The presence of small neuroendocrine tumors was suspected 
      by a positron emission tomography uptake in the epigastric region. The endoscopic 
      ultrasound revealed a pancreatic lesion sized 1.1 cm that is under evaluation. 
      Direct DNA sequencing analysis of the proband MEN1 gene revealed the 579delG 
      frameshift mutation in the exon 3. The genetic screening of the family revealed 
      the same mutation in 3 out of 5 offspring. The biochemical screening revealed 
      some features of the MEN1 syndrome in all three of them. In conclusion, a novel 
      frameshift MEN1 mutation was found in kindred with an apparently negative family 
      history. Our experience confirms that MEN1 syndrome is a complex and 
      underestimated condition, unless specifically investigated by trained 
      specialists.
FAU - Nuzzo, V
AU  - Nuzzo V
AD  - Internal Medicine Unit, Federico II University of Naples, Naples, Italy.
FAU - Tauchmanova, L
AU  - Tauchmanova L
FAU - Falchetti, A
AU  - Falchetti A
FAU - Faggiano, A
AU  - Faggiano A
FAU - Marini, F
AU  - Marini F
FAU - Piantadosi, S
AU  - Piantadosi S
FAU - Brandi, M L
AU  - Brandi ML
FAU - Leopaldi, L
AU  - Leopaldi L
FAU - Colao, A
AU  - Colao A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
SB  - IM
MH  - Adult
MH  - Family Health
MH  - Female
MH  - Frameshift Mutation/*genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pedigree
EDAT- 2006/06/24 09:00
MHDA- 2006/08/12 09:00
CRDT- 2006/06/24 09:00
PHST- 2006/06/24 09:00 [pubmed]
PHST- 2006/08/12 09:00 [medline]
PHST- 2006/06/24 09:00 [entrez]
AID - 1446 [pii]
AID - 10.1007/BF03344129 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 2006 May;29(5):450-6. doi: 10.1007/BF03344129.