Genetic analysis of Cornelia de Lange syndrome in one case / 临床儿科杂志

ABSTRACT

Objective To explore the clinical features and gene mutation types of Cornelia de Lange syndrome (CdLS), an inherited metabolic disease. Methods The clinical data and gene detection results of one case of CdLS were retrospectively analyzed. Results Two-year-old male had special appearance, microcephaly, bushy eyebrows with both sides meeting in the midline, long curly eyelashes, low body mass, and motor and mental retardation. NIPBL gene detection found the variation of the nucleotide in c.7176T>A (nucleotide 7176 in coding region changed from T to A). Conclusions CdLS is a rare congenital inherited metabolic disease. The clinical manifestations were special appearance and signs. The c.7176T>A mutation in NIPBL gene has not been reported at home and abroad.