PMID- 10323403
OWN - NLM
STAT- MEDLINE
DCOM- 19990527
LR  - 20131121
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 84
IP  - 5
DP  - 1999 May
TI  - A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid
      carcinoma.
PG  - 1700-4
AB  - Familial medullary thyroid carcinoma (FMTC) and multiple endocrine neoplasia type
      2A syndromes are dominantly inherited diseases caused by activating germline
      mutations of the RET protooncogene. The majority of these patients carry a
      germline point mutation affecting one of five cysteine residues encoded by exon
      10 (codon 609, 611, 618, or 620) or 11 (codon 634). In a few FMTC families, point
      mutations involving noncysteine codons in exon 13 (codons 768, 790, and 791), 14 
      (codon 804), or 15 (codon 891) have been reported. Hirschsprung's disease is a
      nonneoplastic disorder associated with RET mutations leading to a loss of
      function effect. Mutations are identified in 50% of the familial cases and are
      scattered along the gene. We now report the study of a FMTC family with four
      affected members and a history of fatal neonatal intestinal obstruction in the
      sister of the proband. Genetic analysis demonstrated the absence of an usual FMTC
      mutation and the presence of a germline 9-bp duplication in RET exon 8 in the
      heterozygous state in all patients with MTC. This new mutation creates an
      additional cysteine residue in the extracellular cysteine-rich domain of RET.
      Further studies are warranted to confirm whether this new mutation is causing MTC
      only or could be associated with Hirschsprung's disease.
FAU - Pigny, P
AU  - Pigny P
AD  - Laboratoire de Biochimie-Secteur commun de Biologie Moleculaire de l'Hopital
      Huriez, Centre Hospitalier Regional Universitaire, Lille, France.
      p-pigny@chru-lille.fr
FAU - Bauters, C
AU  - Bauters C
FAU - Wemeau, J L
AU  - Wemeau JL
FAU - Houcke, M L
AU  - Houcke ML
FAU - Crepin, M
AU  - Crepin M
FAU - Caron, P
AU  - Caron P
FAU - Giraud, S
AU  - Giraud S
FAU - Calender, A
AU  - Calender A
FAU - Buisine, M P
AU  - Buisine MP
FAU - Kerckaert, J P
AU  - Kerckaert JP
FAU - Porchet, N
AU  - Porchet N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Coatomer Protein)
RN  - 0 (Membrane Proteins)
RN  - K848JZ4886 (Cysteine)
SB  - IM
MH  - Adult
MH  - Carcinoma, Medullary/*genetics
MH  - Child
MH  - Coatomer Protein
MH  - Cysteine/blood/genetics
MH  - *Exons
MH  - Female
MH  - Germ-Line Mutation
MH  - Hirschsprung Disease/genetics
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Middle Aged
MH  - Mutation
MH  - Pedigree
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Thyroid Neoplasms/*genetics
EDAT- 1999/05/14 00:00
MHDA- 1999/05/14 00:01
CRDT- 1999/05/14 00:00
PHST- 1999/05/14 00:00 [pubmed]
PHST- 1999/05/14 00:01 [medline]
PHST- 1999/05/14 00:00 [entrez]
AID - 10.1210/jcem.84.5.5665 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1999 May;84(5):1700-4. doi: 10.1210/jcem.84.5.5665.