Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome.
Cerebro-costo-mandibular syndrome (CCMS) is an uncommon multiple congenital anomaly syndrome characterized by severe micrognathia, posterior rib-gap defects, and developmental delay. The cause of CCMS is unknown. Genes hypothesized to have a causal role in CCMS, include myogenic factor 5 (MYF5), goosecoid homeobox (GSC) and runt-related transcription factor 2 (RUNX2) [formerly known as core-binding factor (CBFA1)]. We report an infant with typical features of CCMS who, on prenatal ultrasound, was found to have severe micrognathia. We present the first image by three-dimensional computed tomography of posterior rib-defect, and we exclude mutations of the MYF5, GSC, RUNX2, and TCOF1 genes in our patient. Further molecular studies are needed to evaluate the cause of CCMS.
Su
Pen-Hua
PH
Department of Pediatrics, Chung Shan Medical University Hospital School of Medicine, Chung Shan Medical University, Taichung, Taiwan.
Chen
Jia-Yuh
JY
Chiang
Chin-Lung
CL
Ng
Yan-Yan
YY
Chen
Suh-Jen
SJ
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D051956:Goosecoid Protein / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D051787:Myogenic Regulatory Factor 5 / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D011247:Pregnancy; D013902:Radiography, Thoracic; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome
D050659:Core Binding Factor Alpha 1 Subunit; C497992:GSC protein, human; D051956:Goosecoid Protein; C497417:MYF5 protein, human; D051787:Myogenic Regulatory Factor 5; D009687:Nuclear Proteins; D010750:Phosphoproteins; C493709:RUNX2 protein, human; C105442:TCOF1 protein, human