Genetic Screening for MEN1 Mutations in Families Presenting with Familial Primary Hyperparathyroidism
Genetic Screening for MEN1 Mutations in Families
Presenting with Familial Primary Hyperparathyroidism
复制标题
家族性原发性甲状旁腺功能亢进症家族中 MEN1 突变的基因筛查
DOI：
10.1007/s00268-002-6617-9
复制
发表时间：
2002
影响因子：
2.6
通讯作者：
O. Clark
中科院分区：
文献类型：
--
作者：
N. Perrier;A. Villablanca;C. Larsson;M. Wong;P. Ituarte;B. Teh;O. Clark
有大量的家族与家族
A large number of families with familial
isolated hyperparathyroidism (FIHP) have been reported. We wanted to
determine if some of these families represent early manifestations of
full-blown syndromes such as multiple endocrine neoplasia type 1
(MEN-1), as early identification may alter surgical and medical
management. Four small families with a family history of
hyperparathyroidism without clear-cut MEN-1 features were screened for
a MEN1 mutation. The 10 exons of the MEN1 gene
were amplified and analyzed by single-strand conformation analysis
(SSCA). Abnormal SSCA shifts were then sequenced using an automated
sequencer. Two germline mutations were found: R527X and P277H. The
former was detected in three members of a family consisting of two
children and a mother. At the time of testing the youngest son was
normocalcemic and clinically normal but subsequently developed
hyperparathyroidism (HPT). Since the initial testing, the family has
been confirmed to be a MEN-1 family as the mother has developed
abdominal pain and an elevated serum pancreatic polypeptide and the
younger brother an anterior pituitary tumor and recurrent HPT. The
latter P277H mutation was identified in two of three members tested
from another family. Manifestations of MEN-1 syndrome have also
developed. The father now has developed diarrhea and elevated serum
gastrin; and the daughter has developed recurrent HPT. Genetic
screening of families who clinically have FIHP is important and may
influence the type of medical and surgical treatment and follow-up, as
some have MEN-1 syndrome. Long-term screening for MEN syndromes should
be included in this set of patients. Positive screening may predict
disease and allow early detection and appropriate treatment before
initiation of symptoms.
由钙受体细胞质尾部的新突变引起的家族性高钙血症和高钙尿症。
DOI：
10.1210/jcem.85.5.6477
发表时间：
2000
期刊：
The Journal of clinical endocrinology and metabolism.
影响因子：
--
作者：
Carling,T;Szabo,E;Bai,M;Ridefelt,P;Westin,G;Gustavsson,P;Trivedi,S;Hellman,P;Brown,EM;Dahl,N;Rastad,J
通讯作者：
Rastad,J