1.Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome.
Yequan MIAO ; Yueyue ZHU ; Qigang ZHANG ; Haowei GUO ; Yuxiang ZHAO ; Longfei CHENG ; Liangrong HAN ; Ying NING ; Qiong PAN
Chinese Journal of Medical Genetics 2018;35(4):493-497
OBJECTIVETo detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS).
METHODSPeripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing.
RESULTSThe neonates were found to respectively carry mutations c.7219C to T and p.D2339Lfs*4 of the NIPBL gene, among which the p.D2339Lfs*4 mutation has not been reported previously. No pathogenic mutation was found in other CdLS-related genes including NIPBL, SMC1A, SMC3, RAD21 and HDAC8.
CONCLUSIONThe c.7219C to T and p.D2339Lfs*4 mutations of the NIPBL gene probably account for the disease in both patients.
Result Analysis
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