C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease

被引：37

作者：

Caron, P

Attie, T

David, D

Amiel, J

Brousset, F

Roger, P

Munnich, A

Lyonnet, S

机构：

[1] HOP HAUT LEVEQUE, BORDEAUX, FRANCE

[2] HOP NECKER ENFANTS MALAD, INSERM U393, SERV GENET MED, PARIS, FRANCE

[3] HOP NECKER ENFANTS MALAD, INSERM U393, UNITE RECH HANDICAPS GENET ENFANT, PARIS, FRANCE

来源：

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 1996年 / 81卷 / 07期

关键词：

D O I：

10.1210/jc.81.7.2731

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The cosegregation of multiple endocrine neoplasia (MEN) type 2A with Hirschsprung's disease (HSCR), two diseases associated with mutation of the RET proto-oncogene, is infrequent. A 30-yr-old man was referred for screening of MEN 2A. Surgery for HSCR was performed at 4 yr of age. Basal and pentagastrin-stimulated calcitonin levels were abnormal. Histological examination of the thyroid confirmed bilateral medullary thyroid carcinoma. Screening of family members revealed six subjects with medullary thyroid carcinoma or abnormal pentagastrin-stimulated calcitonin test; one had an unilateral pheochromocytoma and two were affected with HSCR. DNA sequence analysis showed a heterozygote C618R mutation in exon 10 of the RET proto-oncogene in the proband and his mother, as well as in second-degree relatives with MEN 2A phenotype or HSCR. In this study, we report on a novel kindred with MEN 2A and HSCR phenotype associated with a point mutation (C618R) in one of the cysteine codons at the extracellular domain of the RET proto-oncogene.

引用

页码：2731 / 2733

页数：3

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