中国当代儿科杂志2026，Vol.28Issue(4)：493-497,5.DOI:10.7499/j.issn.1008-8830.2507060
SOX11基因变异所致Coffin-Siris综合征9型伴Berry综合征1例
A case of Berry syndrome associated with SOX11-related Coffin-Siris syndrome type 9
摘要
Abstract
A male infant was admitted to the neonatal intensive care unit for respiratory distress 12 minutes after preterm birth.Prenatal fetal echocardiography suggested transposition of the great arteries with an intact ventricular septum.Amniocentesis and family-based whole-exome sequencing identified a heterozygous missense variant in SOX11(c.152G>C,p.Arg51Pro),leading to a diagnosis of Coffin-Siris syndrome type 9.Postnatal echocardiography and computed tomography angiography confirmed Berry syndrome.Single-stage corrective surgery was performed with good recovery.This report presents the first documented case of Coffin-Siris syndrome type 9 complicated by Berry syndrome and identifies a previously unreported SOX11 variant,expanding the pathogenic phenotypic spectrum associated with this gene and suggesting its potential role in regulating cardiovascular development.These findings provide important evidence for genetic counseling and prenatal diagnosis and indicate that enhanced cardiovascular evaluation is warranted for fetuses carrying SOX11 variants to enable early identification of severe malformations such as Berry syndrome.关键词
Coffin-Siris综合征9型/SOX11基因/Berry综合征/新生儿Key words
Coffin-Siris syndrome type 9/SOX11 gene/Berry syndrome/Neonate引用本文复制引用
王瑗,王志..SOX11基因变异所致Coffin-Siris综合征9型伴Berry综合征1例[J].中国当代儿科杂志,2026,28(4):493-497,5.基金项目
宁波市医疗品牌学科-儿科重症学(PPXK-2024-06) （PPXK-2024-06）
小儿心血管疾病产前产后一体化诊疗体系的构建及关键诊疗技术的突破(2022020405) （2022020405）
浙江省医药卫生科技计划项目(2025KY1418). （2025KY1418）
