Kidney malformations and Hirschsprung's disease in carriers of cysteine mutations in exon 10 of the RET proto-oncogene.
Hirschsprung’s disease
Loss-of-function phenotype
Polycystic kidney disease
RET germline mutation
Renal agenesis
Ureteropelvicalyceal dilatation
Journal
Endocrine
ISSN: 1559-0100
Titre abrégé: Endocrine
Pays: United States
ID NLM: 9434444
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
received:
31
01
2021
accepted:
09
03
2021
pubmed:
24
3
2021
medline:
9
7
2021
entrez:
23
3
2021
Statut:
ppublish
Résumé
This investigation aimed at characterizing penetrance and interrelation of the loss-of-function phenotypes, Hirschsprung's disease and kidney malformations, in carriers of exon 10 REarranged during Transfection (RET) mutations. Comparative analysis of penetrance of and interdependencies between Hirschsprung's disease and kidney malformations among carriers of mutations in RET codons 609, 611, 618, and 620. Hirschsprung's disease and kidney malformations (kidney agenesis, ureteropelvicalyceal dilatation, or polycystic kidney disease) each affected 3.6% (4 patients) of 112 carriers of RET mutations in exon 10. This percentage increased to 13% (4 patients) and 9% (3 patients) of 32 p.Cys620 carriers and 22% (4 patients) and 17% (3 patients) of 18 p.Cys620Arg carriers, respectively. Overall, Hirschsprung's disease (17%, 4 of 24 carriers; P = 0.002) and kidney malformations (13%, 3 of 24 carriers; P = 0.030) were associated with arginine-for-cysteine substitutions. Two of the six patients, originating from different p.Cys620Arg families, harbored both Hirschsprung's disease and kidney malformations. Hirschsprung's disease and kidney malformations are the more penetrant, the closer the cysteine mutations are located to the transmembrane domain (codon 636-657) of the RET kinase receptor.
Identifiants
pubmed: 33754314
doi: 10.1007/s12020-021-02686-1
pii: 10.1007/s12020-021-02686-1
doi:
Substances chimiques
MAS1 protein, human
0
Proto-Oncogene Mas
0
Proto-Oncogene Proteins
0
Proto-Oncogene Proteins c-ret
EC 2.7.10.1
RET protein, human
EC 2.7.10.1
Cysteine
K848JZ4886
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
217-222Références
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