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Novel complex disease allele mutations in cleidocranial dysplasia patients
Author(s) -
Anthonappa Robert P.,
YanHui Fan,
King Nigel M.,
Rabie Abu Bakr M.,
YouQiang Song
Publication year - 2014
Publication title -
journal of oral pathology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.887
H-Index - 83
eISSN - 1600-0714
pISSN - 0904-2512
DOI - 10.1111/jop.12198
Subject(s) - cleidocranial dysplasia , genetics , proband , allele , biology , exon , gene , mutation , osteochondrodysplasia , anatomy , supernumerary
This study reports a novel identical complex disease allele harboring two non‐synonymous mutations that were identified in two southern Chinese individuals of the same family with cleidocranial dysplasia ( CCD ). Blood samples were obtained from the proband, his parents, plus 100 matched control subjects. Exons 0 to 7 of the RUNX 2 gene were amplified using specific primers and sequenced. Multiple sequence alignment and protein structure modeling was performed using ClustalW2 and MODBASE software while PolyPhen‐2 and MutationTaster applications were employed to predict the disease‐causing potential of the identified mutations. A complex disease allele in two affected individuals harboring two non‐synonymous mutations in a cis‐position on exons 4 (D273N) and 5 (P299L) were identified. The identified mutations were in the conserved region and changed the protein structure.