White-Sutton综合征临床表型扩展及治疗尝试：病例系列报告

doi:10.12372/jcp.2026.24e1398

临床儿科杂志 ›› 2026, Vol. 44 ›› Issue (1): 38-43.doi: 10.12372/jcp.2026.24e1398

White-Sutton综合征临床表型扩展及治疗尝试：病例系列报告

范瑞¹^,², 张一宁², 李辛¹, 李娟¹, 李群¹, 李智颖¹, 顾世立¹, 胡斐涵¹, 高诗阳¹, 冯碧云¹, 姚如恩³, 王秀敏¹()

1.上海交通大学医学院附属上海儿童医学中心内分泌代谢科（上海 200127）
2.吉林大学第一医院儿童医院小儿内分泌遗传代谢科（吉林长春 130000）
3.上海交通大学医学院附属上海儿童医学中心遗传分子诊断科（上海 200127）

收稿日期:2024-12-30 录用日期:2025-10-22 出版日期:2026-01-15 发布日期:2026-01-05
通讯作者: 王秀敏电子信箱：wangxiumin@scmc.com.cn
基金资助:
中国国家重点研发计划(2022YFC2703102);上海市儿童罕见病临床研究中心(20MC1920400);上海市卫生和计划生育委员会(20204Y0346)

Clinical phenotype expansion and treatment attempts of White-Sutton syndrome: a series of case reports

FAN Rui¹^,², ZHANG Yining², LI Xin¹, LI Juan¹, LI Qun¹, LI Zhiying¹, GU Shili¹, HU Feihan¹, GAO Shiyang¹, FENG Biyun¹, YAO Ruen³, WANG Xiumin¹()

1. Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
2. Department of Pediatric Endocrinology, Genetics and Metabolism, Children's Medical Center, The First Hospital of Jilin University, Changchun 130000, Jilin, China
3. Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China

Received:2024-12-30 Accepted:2025-10-22 Published:2026-01-15 Online:2026-01-05

摘要/Abstract

摘要：

目的 White-Sutton综合征（WHSUS）是一种表型差异极大的单基因遗传病，本研究旨在进一步扩展WHSUS的临床表型谱，并探讨潜在改善症状的治疗方法。方法回顾性分析2018年7月至2023年2月就诊于上海儿童医学中心的4例WHSUS患儿的临床资料。结果 4例患儿首诊年龄范围为1~9岁，男2例、女2例，均有语言及运动发育落后。例1，女，表现为既往未报道过的临床表型，即脊髓栓系综合征（TCS），同时患有胰岛素抵抗。例2，女，因身材矮小和学习成绩差就诊，患儿接受了3.5年的生长激素治疗，随访至12岁1个月时，身高为152 cm（P₅₀），月经正常。例3，男，因语言发育迟缓就诊。例4，男，语言发育迟缓且有孤独症谱系障碍倾向。此4例均存在POGZ基因新生变异，诊断为WHSUS。结论本研究详细报道了4例WHSUS患者的临床特征，扩展了WHSUS的表型谱。同时，首次报道了WHSUS伴身材矮小患儿应用生长激素的治疗尝试，为此类疾病的对症治疗提供了新的思路。

关键词: White-Sutton综合征, POGZ基因, 脊髓栓系综合征

Abstract:

Objective White-Sutton syndrome (WHSUS) is a monogenic genetic disorder with significant phenotypic differences. This study aims to further expand the clinical phenotypic spectrum of WHSUS and explore potential treatment methods for improving symptoms. Methods A retrospective analysis was conducted on the clinical data of four WHSUS patients who visited Children's Medical Center from July 2018 to February 2023. Results The age range of the first diagnosis of the 4 patients was 1-9 years old, 2 boys and 2 girls, all of whom had delayed language and motor development. Patient 1, a girl, exhibited a previously unreported clinical phenotype, tethered cord syndrome (TCS), and concurrent insulin resistance. Patient 2, a girl, visited the doctor due to short stature and poor academic performance. She received growth hormone treatment for 3.5 years. At the age of 12 years and 1 month during the follow-up, her height was 152 cm (P₅₀), and her menstruation was normal. Patient 3, a boy, was treated for delayed language development. Patient 4 was a boy with delayed language development and autistic tendency. All four patients had de novo mutations in the POGZ gene and were diagnosed with WHSUS. Conclusions This study detailedly reported the clinical features of 4 patients with WHSUS, expanding the phenotypic spectrum of WHSUS. Meanwhile, it was the first to report the treatment attempt of growth hormone for a child with WHSUS and short stature, providing a new idea for the symptomatic treatment of this kind of disease.

Key words: White-Sutton syndrome, POGZ gene, tethered cord syndrome

中图分类号:

范瑞, 张一宁, 李辛, 李娟, 李群, 李智颖, 顾世立, 胡斐涵, 高诗阳, 冯碧云, 姚如恩, 王秀敏. White-Sutton综合征临床表型扩展及治疗尝试：病例系列报告[J]. 临床儿科杂志, 2026, 44(1): 38-43.

FAN Rui, ZHANG Yining, LI Xin, LI Juan, LI Qun, LI Zhiying, GU Shili, HU Feihan, GAO Shiyang, FENG Biyun, YAO Ruen, WANG Xiumin. Clinical phenotype expansion and treatment attempts of White-Sutton syndrome: a series of case reports[J]. Journal of Clinical Pediatrics, 2026, 44(1): 38-43.

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参考文献 19

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项目	患儿
项目	例1	例2	例3	例4
性别	女	女	男	男
就诊年龄/岁	9	9	1.5	1
语言发育落后	＋	＋	＋	＋
运动发育落后	＋	＋	＋	＋
ASD	－	－	－	＋
视力问题	＋	＋	－	－
听力受损	＋	－	－	－
肥胖	＋	－	－	－
其他表型	TCS	－	－	－
矮小症	－	＋	－	－
先天性畸形	泌尿系统先天性畸形	－	－	－
POGZ变异	c.1180_1181del(chr1:151397435_151397436)	c.2310C>G	c3847C>T	c.3424C>T
变异来源	新发变异	新发变异	新发变异	新发变异
基因变异致病性评级	致病性	致病性	可能致病性	致病性
治疗	康复训练	生长激素	康复训练	康复训练

系统	表型
神经系统	大运动、精细运动、语言发育迟缓，肌张力低，髓鞘形成延迟，脑室周围白质病变，小脑、脑干、胼胝体发育不良，Dandy-Walker畸形，脑室扩大，癫痫，大脑萎缩，感音神经性听力损失（双侧/单侧）；行为异常（ASD、焦虑、社交互动受限、自伤行为、注意力缺陷、低挫折耐受性）
心血管系统	先天性心脏病（动脉导管未闭、房间隔缺损）
骨骼系统	矮小、下肢异常、短头畸形、小头畸形、斜头畸形、短颈、小手、指宽、指弯曲畸形、并指、关节松弛、脊柱侧弯
消化、内分泌系统	吞咽困难、便秘、周期性呕吐、胃食管反流、膈疝、其他类型疝、肠套叠、肠旋转不良、直肠脱垂、肥胖
泌尿生殖系统	肾盂输尿管连接部梗阻、肾发育不良、隐睾、小阴茎、原发性闭经
口腔颌面部	眼距过宽、中面部发育不良、额部宽阔、上唇薄、鼻梁塌陷且平坦、内眦赘皮、唇腭裂
眼部	近视、斜视、远视、虹膜缺损、视交叉发育不良、视神经萎缩、杆锥营养不良、皮质性视觉障碍

White-Sutton综合征临床表型扩展及治疗尝试：病例系列报告

Clinical phenotype expansion and treatment attempts of White-Sutton syndrome: a series of case reports

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