Cornelia de Lange 증후군 환아에서 NIPBL 유전자의 새로운 돌연변이 발견
A novel NIPBL mutation in a newborn girl with Cornelia de Lange syndrome
Abstract
Cornelia de Lange syndrome is a genetic disorder associated with delayed growth, intellectual disability, limb reduction defects, and characteristic facial features. Frameshift mutations in NIPBL have recently been reported to cause CdLS. We report a clinical and genetic analysis of two Korean patients with clinical features consistent with CdLS. Case #1 : A female infant was born at the 37 weeks of gestation. She had multiple anomalies such as single umbilical artery, cleft palate, ptosis, low anterior hairline, long eyelashes, arthrogryposis of both elbows, and micromelia of both hands and feet. With informed consent, direct sequencing of NIPBL gene was performed and revealed a novel frameshift mutation. The deletion 6679delGTCA in exon 39 of NIPBL was seen. Case #2 : A female infant was born at the 36+4 weeks. She had multiple anomalies such as low anterior hairline, long eyelashes, arthrogryposis of Right elbows, and micromelia of Right hand. With informed consent, direct sequencing of NIPBL gene was performed and revealed a novel frameshift mutation. The deletion 3788_3789delTG in exon 16 of NIPBL was seen. Conclusion : We report here sporadic cases of CdLS with a novel framshift mutation of NIPBL gene.