Case report of immunodeficiency, centromeric instability, facial anomalies syndrome type 2 caused by the ZBTB24 gene mutation / 中华实用儿科临床杂志

ABSTRACT

The clinical and genetic features of a child with immunodeficiency, centromeric instability, facial anomalies syndrome type 2(ICF2)admitted to pediatrics of the First Affiliated Hospital of Shandong First Medical University in June 2017 were retrospectively analyzed and the literature was reviewed.A 13-month-old female patient with flat nasal bridge and hypertelorism presented to the hospital for recurrent infection for 1 year.Laboratory tests showed humoral immune deficiency with immunoglobulin(Ig)G, IgA and IgM.Whole-exome sequencing revealed a de novo heterozygous frameshift mutation c. 1237_1247del and a de novo heterozygous nonsense mutation c. 460A>T of ZBTB24 gene.Through searching " ICF syndrome" " immunodeficiency, centromeric instability and facial anomalies syndrome" and " ZBTB24" in CNKI, Wanfang databases and PubMed published until August 2020, a total of 13 English language literatures involving 24 children with ICF2 were searched.The most common facial anomalies were hyper-telorism, epicanthus and flat nasal bridge.Most children had recurrent respiratory and digestive tract infections.All the children had humoral immune deficiency at varying degrees.All 24 children had ZBTB24 gene mutation, 16 mutations were reported, including 6 frameshift, 5 nonsense, 5 missense mutations.ICF syndrome is a rare autosomal recessive primary immunodeficiency with classic clinical manifestations, including humoral immune deficiency and facial anomalies.It can be diagnosed by genetic analysis.