Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families

被引：26

作者：

Bir, Firdevs Dincsoy ^{[1
]}

Dinckan, Nuriye ^{[2
,3
]}

Guven, Yeliz ^{[4
]}

Bas, Firdevs ^{[5
]}

Altunoglu, Umut ^{[2
]}

Kuvvetli, Senem S. ^{[6
]}

Poyrazoglu, Sukran ^{[5
]}

Toksoy, Guven ^{[2
]}

Kayserili, Hulya ^{[7
]}

Uyguner, Z. Oya ^{[2
]}

机构：

[1] Canakkale Onsekiz Mart Univ, Fac Med, Dept Med Genet, TR-17020 Canakkale, Turkey

[2] Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey

[3] Univ Texas Hlth Sci Ctr Houston, Ctr Craniofacial Res, Dept Diagnost & Biomed Sci, Houston, TX 77030 USA

[4] Istanbul Univ, Fac Dent, Dept Pedodont, Istanbul, Turkey

[5] Istanbul Univ, Istanbul Fac Med, Istanbul, Turkey

[6] Yeditepe Univ, Fac Dent, Dept Pedodont, Istanbul, Turkey

[7] Koc Univ, Fac Med, Med Genet, Istanbul, Turkey

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2017年 / 60卷 / 03期

关键词：

Cleidocranial dysplasia; Dental abnormalities; Osteoporosis; RUNX2; Underdeveloped clavicles; BONE-MINERAL DENSITY; VITAMIN-D DEFICIENCY; TURKISH CHILDREN; RUNX2; MUTATIONS; CBFA1; GENE; OSTEOPENIA; MICE;

D O I：

10.1016/j.ejmg.2016.12.007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57.1% and osteopenia at 21.4%. In this study, RUNX2 sequencing revealed nine different variations in 11 families, eight being pathogenic of which one was novel gross insertion (c.1271_1272ins20) and one other being predicted benign in frame gross deletion (c.241_258del). (C) 2016 Elsevier Masson SAS. All rights reserved.

引用

页码：163 / 168

页数：6

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