TY - JOUR
T1 - Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4α, GCK and TCF1 in patients with MODY in Israel
AU - Stern, E.
AU - Strihan, C.
AU - Potievsky, O.
AU - Nimri, R.
AU - Shalitin, S.
AU - Cohen, O.
AU - Shehadeh, N.
AU - Weintrob, N.
AU - Phillip, Moshe
AU - Gat-Yablonski, G.
PY - 2007/8
Y1 - 2007/8
N2 - Maturity onset diabetes of the young (MODY) is characterized by a primary defect in insulin secretion with non-ketotic hyperglycemia, monogenic autosomal dominant mode of inheritance, age at onset less than 25 years, and lack of autoantibodies. The aim of this study was to characterize the genetic basis of MODY in different ethnic groups in the Israeli population. Fifty-nine unrelated Israeli patients with MODY were assessed for mutations in the three common MODY genes: hepatocyte nuclear factor (HNF)4α, glucokinase (GCK), and transcription factor 1 (TCF1). Overall, 11 mutations in 12 unrelated families were found (20.3% of patients), for a relative frequency of 1.7% for MODY1, 8.5% for MODY2, and 10.1% for MODY3. Four mutations were novel, including the first gross deletion ever described in the TCF1 gene. The low overall mutation frequency found here may suggest the involvement of other, yet unidentified, genes in the etiology of MODY in Israel.
AB - Maturity onset diabetes of the young (MODY) is characterized by a primary defect in insulin secretion with non-ketotic hyperglycemia, monogenic autosomal dominant mode of inheritance, age at onset less than 25 years, and lack of autoantibodies. The aim of this study was to characterize the genetic basis of MODY in different ethnic groups in the Israeli population. Fifty-nine unrelated Israeli patients with MODY were assessed for mutations in the three common MODY genes: hepatocyte nuclear factor (HNF)4α, glucokinase (GCK), and transcription factor 1 (TCF1). Overall, 11 mutations in 12 unrelated families were found (20.3% of patients), for a relative frequency of 1.7% for MODY1, 8.5% for MODY2, and 10.1% for MODY3. Four mutations were novel, including the first gross deletion ever described in the TCF1 gene. The low overall mutation frequency found here may suggest the involvement of other, yet unidentified, genes in the etiology of MODY in Israel.
KW - Deletion
KW - GCK
KW - HNF-4α
KW - Israel
KW - MODY
KW - TCF1
UR - http://www.scopus.com/inward/record.url?scp=34648836843&partnerID=8YFLogxK
U2 - 10.1515/jpem.2007.20.8.909
DO - 10.1515/jpem.2007.20.8.909
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C2 - 17937063
AN - SCOPUS:34648836843
SN - 0334-018X
VL - 20
SP - 909
EP - 921
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
IS - 8
ER -
