Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease

被引：55
作者：
Borrego, S
Eng, C
Sánchez, B
Sáez, ME
Navarro, E
Antiñolo, G
机构：
[1] Hosp Univ Virgen del Rocio, Unidad Genet Med & Diagn Prenatal, Seville 41013, Spain
[2] Hosp Univ Virgen del Rocio, Serv Endocrinol, Seville 41013, Spain
[3] Dana Farber Canc Inst, Dept Adult Oncol, Charles A Dana Human Canc Genet Unit, Translat Res Lab, Boston, MA 02115 USA
[4] Harvard Univ, Sch Med, Dept Med, Boston, MA 02115 USA
[5] Univ Cambridge, Canc Res Campaign, Human Canc Genet Res Grp, Cambridge, England
来源：
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 1998年 / 83卷 / 09期
关键词：
D O I：
10.1210/jc.83.9.3361
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
The clinical association between multiple endocrine neoplasia type 2 (MEN2) and Hirschsprung disease (HSCR) is infrequent. Germline mutations of the ret protooncogene are the underlying cause of the MF;NZ syndromes and a proportion of cases of HSCR. In this report, we describe a new kindred in which the MENS and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene. We also speculate about the role of a silent mutation in exon 2 of this same gene (A45A), present in a homozygous state in the patient with both MEN2A and HSCR. To investigate the contribution of GDNF to the phenotype observed in this kindred, we scanned the coding region of GDNF in the patient with MEN2/HSCR, but no mutation was found.
引用
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页码：3361 / 3364
页数：4
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