1 Ocak 2021 Dergi makalesi Açık Erişim

Berkay, Ezgi Gizem; Elkanova, Leyla; Kalayci, Tugba; Uludag Alkaya, Dilek; Altunoglu, Umut; Cefle, Kivanc; Mihci, Ercan; Nur, Banu; Tasdelen, Elifcan; Bayramoglu, Zuhal; Karaman, Volkan; Toksoy, Guven; Gunes, Nilay; ozturk, Sukru; Palanduz, Sukru; Kayserili, Hulya; Tuysuz, Beyhan; Uyguner, Zehra Oya

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    <subfield code="a">Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey</subfield>
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    <subfield code="a">Loss or decrease of function in runt-related transcription factor 2 encoded by RUNX2 is known to cause a rare autosomal-dominant skeletal disorder, cleidocranial dysplasia (CCD). Clinical spectrum and genetic findings in 51 CCD patients from 30 unrelated families are herein presented. In a majority of the patients, facial abnormalities, such as delayed fontanel closure (89%), parietal and frontal bossing (80%), metopic groove (77%), midface hypoplasia (94%), and abnormal mobility of shoulders (90%), were recorded following clinical examination. In approximately one-half of the subjects, wormian bone (51%), short stature (43%), bell-shaped thorax (42%), wide pubic symphysis (50%), hypoplastic iliac wing (59%), and chef's hat sign (44%) presented in available radiological examinations. Scoliosis was identified in 28% of the patients. Investigation of RUNX2 revealed small sequence alterations in 90% and gross deletions in 10% of the patients; collectively, 23 variants including 11 novel changes (c.29_30insT, c.203delAinsCG, c.423 + 2delT, c.443_454delTACCAGATGGGAinsG, c.505C &amp;gt; T, c.594_595delCTinsG, c.636_637insC, c.685 + 5G &amp;gt; A, c.1088G &amp;gt; T, c.1281delC, Exon 6-9 deletion) presented high allelic heterogeneity. Novel c.29_30insT is unique in affecting the P1-driven long isoform of RUNX2, which is expected to disrupt the N-terminal region of RUNX2; this was shown in two unrelated phenotypically discordant patients. The clinical findings highlighted mild intra-familial genotype-phenotype correlation in our CCD cohort.</subfield>
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