摘要目的:总结和分析 ADNP基因变异所致Helsmoortel-Van der Aa综合征(HVDAS)患者的表型和生物学特征，为早期诊断该病提供线索。 方法:分析1例由 ADNP基因热点变异所致HVDAS患儿的病例资料和基因检测结果，并对相关文献进行回顾。 结果:患儿为2岁女性，以生长落后为主诉，伴有特殊面容、精神运动及语言发育落后、反复呼吸道感染，基因检测发现其携带 ADNP基因c.2496_2499delTAAA(p.Asn832Lysfs*81)杂合移码变异，其父母均未携带相同的变异。 结论:尽管HVDAS以智力发育障碍、孤独症谱系障碍和特殊外貌为主要表现，但生长迟缓和乳牙早萌出也是其临床特征。携带 ADNP基因热点变异者的表型差异并不明显。

abstractsObjective:To summarize the clinical features and biological characteristics of Helsmoortel Van der Aa syndrome (HVDAS) due to hotspot mutations of the ADNP gene in order to facilitate early diagnosis. Methods:Clinical data and result of genetic testing for a girl with HVDAS due to hotspot mutation of the ADNP gene was summarized. Related literature was also reviewed. Results:The patient, a 2-year-old girl, had presented with growth retardation, facial dysmorphism, psychomotor and language delay and recurrent respiratory infections. Whole exome sequencing revealed that she has harbored a heterozygous c. 2496_2499delTAAA (p.Asn832Lysfs*81) variant of the ADNP gene, which was not found in either of her parents. Conclusion:Although the typical features of the HVDAS have included intellectual disability and autism spectrum disorders, growth retardation and premature primary tooth eruption may also be present. In addition, the phenotypic difference among individuals carrying hot spot variants of the ADNP gene was not prominent.