PMID- 10395244
OWN - NLM
STAT- MEDLINE
DCOM- 19990803
LR  - 20211203
IS  - 0918-8959 (Print)
IS  - 0918-8959 (Linking)
VI  - 45
IP  - 5
DP  - 1998 Oct
TI  - Familial isolated hyperparathyroidism caused by single adenoma: a distinct entity 
      different from multiple endocrine neoplasia.
PG  - 637-46
AB  - Familial hyperparathyroidism (FHPT) is a hereditary disease where 
      hyperparathyroidism (HPT) is transmitted in an autosomal dominant fashion. FHPT 
      consists of a variety of diseases such as multiple endocrine neoplasia type1 (MEN 
      1) and type2 (MEN 2), familial isolated hyperparathyroidism (FIHPT) with single 
      adenoma and with multiple adenomas (or hyperplasia), and FHPT with jaw-tumor 
      (FHPT-JT). Isolation of the genes responsible for MEN1, and 2, i.e. MEN1 and RET, 
      respectively, makes it possible to examine the relations among disorders 
      constituting FHPT. We studied germ-line mutations in these 2 genes in a family of 
      FHPT with single parathyroid adenoma. The disorder in this family was proved to 
      be an entity different from MEN1 because no germ-line mutations in MEN1 gene were 
      found in the affected members. The loss of heterozygosity (LOH) at MEN1 gene and 
      PYGM were not found in the abnormal parathyroid in this family, supporting the 
      above conclusion. No mutations in exons 10, and 11 of RET proto-oncogene was 
      found in germ-line DNA of the affected member of the family, suggesting no 
      relation to MEN2A. Linkage study excluded the possibility of FHPT-JT syndrome. 
      PRAD1 was not overexpressed in the parathyroid tumors in this family. The 
      relation of this disorder to FIHPT with multiple enlarged parathyroid glands 
      remains to be clarified. A search for the gene(s) predisposing to FIHPT is 
      needed.
FAU - Watanabe, T
AU  - Watanabe T
AD  - Department of Surgical Oncology, Osaka University Medical School, Suita-shi, 
      Japan.
FAU - Tsukamoto, F
AU  - Tsukamoto F
FAU - Shimizu, T
AU  - Shimizu T
FAU - Sugimoto, T
AU  - Sugimoto T
FAU - Taguchi, T
AU  - Taguchi T
FAU - Nishisho, I
AU  - Nishisho I
FAU - Nakazawa, H
AU  - Nakazawa H
FAU - Shiba, E
AU  - Shiba E
FAU - Shishiba, Y
AU  - Shishiba Y
FAU - Takai, S
AU  - Takai S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
RN  - 0 (Drosophila Proteins)
RN  - 0 (Genetic Markers)
RN  - 0 (MAS1 protein, human)
RN  - 0 (Proto-Oncogene Mas)
RN  - 0 (Proto-Oncogene Proteins)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-ret)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
RN  - EC 2.7.10.1 (Ret protein, Drosophila)
SB  - IM
MH  - Adenoma/*genetics
MH  - Adult
MH  - *Drosophila Proteins
MH  - Female
MH  - Genetic Markers
MH  - Germ-Line Mutation
MH  - Haplotypes
MH  - Humans
MH  - Hyperparathyroidism/*genetics
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/genetics
MH  - Parathyroid Neoplasms/*genetics/pathology
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Proto-Oncogene Mas
MH  - Proto-Oncogene Proteins/genetics
MH  - Proto-Oncogene Proteins c-ret
MH  - Receptor Protein-Tyrosine Kinases/genetics
RF  - 50
EDAT- 1999/07/08 00:00
MHDA- 1999/07/08 00:01
CRDT- 1999/07/08 00:00
PHST- 1999/07/08 00:00 [pubmed]
PHST- 1999/07/08 00:01 [medline]
PHST- 1999/07/08 00:00 [entrez]
AID - 10.1507/endocrj.45.637 [doi]
PST - ppublish
SO  - Endocr J. 1998 Oct;45(5):637-46. doi: 10.1507/endocrj.45.637.