PMID- 27366707
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20160701
LR  - 20200930
IS  - 2230-8210 (Print)
IS  - 2230-9500 (Electronic)
IS  - 2230-9500 (Linking)
VI  - 20
IP  - 4
DP  - 2016 Jul-Aug
TI  - Novel multiple endocrine neoplasia type 1 variations in patients with sporadic 
      primary hyperparathyroidism.
PG  - 432-6
LID - 10.4103/2230-8210.183467 [doi]
AB  - BACKGROUND AND OBJECTIVES: Primary hyperparathyroidism (PHPT) can occur either as 
      a sporadic case or in association with syndromes such as multiple endocrine 
      neoplasia. Multiple endocrine neoplasia type 1 (MEN1) is a rare 
      autosomal-dominant disease resulting from mutations in MEN1 gene encoding a 621 
      amino acid long tumor suppressor protein "menin." We report here the results of 
      MEN1 screening in 31 patients diagnosed with sporadic PHPT. MATERIALS AND 
      METHODS: Diagnosis of sporadic PHPT was made when blood urea and serum creatinine 
      were normal, serum parathyroid hormone was high, and parathyroid enlargement 
      could be localized on ultrasound and/or parathyroid scan. A total of 31 patients 
      and 50 healthy volunteers were recruited for molecular analysis after taking 
      informed consent. RESULTS: Major symptoms at presentation were bone pain, 
      fatigue, muscle weakness, and renal stones. Molecular genetic analysis revealed 
      the presence of two novel intronic variations, c. 913-79T>A and c. 784-129T>A 
      which by human splicing finder are predicted to cause potential alteration of 
      splicing by either activating an intronic cryptic acceptor site or converting a 
      conserved exonic splicing silencer sequence to an exonic splicing enhancer site. 
      Apart from these, two reported polymorphisms rs144677807 and rs669976 were seen 
      only in patients and none of the controls. Other reported polymorphisms rs2071313 
      and rs654440 were identified both in controls and patients. CONCLUSIONS: This is 
      the first study of MEN1 gene screening in sporadic PHPT in India reporting on the 
      clinical and genetic findings, wherein two novel intronic variations c. 913-79T>A 
      and c. 784-129T>A were identified showing their possible role in disease 
      causation.
FAU - Birla, S
AU  - Birla S
AD  - Laboratory of Cyto-Molecular Genetics, Department of Anatomy, AIIMS, New Delhi, 
      India.
FAU - Malik, E
AU  - Malik E
AD  - Laboratory of Cyto-Molecular Genetics, Department of Anatomy, AIIMS, New Delhi, 
      India.
FAU - Jyotsna, V P
AU  - Jyotsna VP
AD  - Department of Endocrinology and Metabolism, AIIMS, New Delhi, India.
FAU - Sharma, A
AU  - Sharma A
AD  - Laboratory of Cyto-Molecular Genetics, Department of Anatomy, AIIMS, New Delhi, 
      India.
LA  - eng
PT  - Journal Article
PL  - India
TA  - Indian J Endocrinol Metab
JT  - Indian journal of endocrinology and metabolism
JID - 101555690
PMC - PMC4911830
OTO - NOTNLM
OT  - Multiple endocrine neoplasia type 1 gene
OT  - mutations
OT  - primary hyperparathyroidism
EDAT- 2016/07/02 06:00
MHDA- 2016/07/02 06:01
PMCR- 2016/07/01
CRDT- 2016/07/02 06:00
PHST- 2016/07/02 06:00 [entrez]
PHST- 2016/07/02 06:00 [pubmed]
PHST- 2016/07/02 06:01 [medline]
PHST- 2016/07/01 00:00 [pmc-release]
AID - IJEM-20-432 [pii]
AID - 10.4103/2230-8210.183467 [doi]
PST - ppublish
SO  - Indian J Endocrinol Metab. 2016 Jul-Aug;20(4):432-6. doi: 
      10.4103/2230-8210.183467.