PMID- 10229909
OWN - NLM
STAT- MEDLINE
DCOM- 19990622
LR  - 20190905
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 140
IP  - 5
DP  - 1999 May
TI  - A new mutation of the MEN1 gene in an italian kindred with multiple endocrine 
      neoplasia type 1.
PG  - 429-33
AB  - OBJECTIVE: To report a new mutation of the multiple endocrine neoplasia type 1 
      (MEN1) gene in an Italian kindred. DESIGN: The study included the female proband, 
      aged 50 years, affected by primary hyperparathyroidism, insulinoma and 
      prolactinoma, and ten relatives. Blood samples were obtained for biochemical and 
      genetic analyses. Clinical screening tests included serum glucose, ionized 
      calcium, intact parathyroid hormone, GH, insulin and prolactin. The coding 
      sequence, including nine coding exons and 16 splice sites, was amplified by PCR 
      and directly sequenced. RESULTS: Two additional cases of primary 
      hyperparathyroidism were identified among the paternal family members. The 
      sequence analysis showed a heterozygous T to C transition at codon 444 in exon 9, 
      resulting in a leucine to proline substitution (L444P) in the patient and in the 
      two paternal family members with primary hyperparathyroidism. The L444P amino 
      acid change was absent in 50 normal subjects. The mutation determined the loss of 
      a BlnI restriction site of the wild-type sequence and the creation of a new 
      restriction EcoRII site. The patient, but not her paternal affected relatives, 
      also had a common heterozygous polymorphism (D418D) in exon 9. CONCLUSIONS: A new 
      MEN1 mutation (L444P) in exon 9 has been identified; this substitution caused the 
      loss of a BlnI restriction site and the creation of a new EcoRII site.
FAU - Cetani, F
AU  - Cetani F
AD  - Dipartimento di Endocrinologia e Metabolismo, Ortopedia e Traumatologia, Medicina 
      del Lavoro, Universita di Pisa, Pisa, Italy.
FAU - Pardi, E
AU  - Pardi E
FAU - Cianferotti, L
AU  - Cianferotti L
FAU - Vignali, E
AU  - Vignali E
FAU - Picone, A
AU  - Picone A
FAU - Miccoli, P
AU  - Miccoli P
FAU - Pinchera, A
AU  - Pinchera A
FAU - Marcocci, C
AU  - Marcocci C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - 0 (Antisense Elements (Genetics))
RN  - 0 (Codon)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 9DLQ4CIU6V (Proline)
RN  - GMW67QNF9C (Leucine)
SB  - IM
MH  - Antisense Elements (Genetics)
MH  - Codon/genetics
MH  - Exons/genetics
MH  - Female
MH  - Humans
MH  - Leucine/metabolism
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutation/*physiology
MH  - Mutation, Missense
MH  - Neoplasm Proteins/*genetics
MH  - Pedigree
MH  - Polymorphism, Restriction Fragment Length
MH  - Proline/metabolism
MH  - *Proto-Oncogene Proteins
EDAT- 1999/05/07 00:00
MHDA- 1999/05/07 00:01
CRDT- 1999/05/07 00:00
PHST- 1999/05/07 00:00 [pubmed]
PHST- 1999/05/07 00:01 [medline]
PHST- 1999/05/07 00:00 [entrez]
AID - 10.1530/eje.0.1400429 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 1999 May;140(5):429-33. doi: 10.1530/eje.0.1400429.