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| Clinical diagnosis and literature review of Helsmoortel-Van der Aa syndrome |
| LI Yu, CHEN Qihui, WU Ruohao, SUN Yi, TANG Danxia, LI Dongfang, HE Zhanwen. |
| Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Department of Pediatric Neurology, Guangzhou 510120, China |
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LI Yu,CHEN Qihui,WU Ruohao, et al. Clinical diagnosis and literature review of Helsmoortel-Van der Aa syndrome[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2023, 53(10): 834-838.
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Abstract Objective: To summarize the clinical manifestations and genetic characteristics of Helsmoortel-Van der Aa syndrome (HVDAS) caused by ADNP gene mutation with a review of the related literatures. Methods:The clinical data of the patient with HVDAS confirmed in August 2020 at the Department of Pediatrics of Sun Yat-sen Memorial Hospital, Sun Yat-sen University were collected retrospectively. The data for analysis included clinical manifestations, biochemical tests and gene tests. Meanwhile, literatures on HVDAS caused by ADNP gene mutation were searched from domestic and foreign databases. Results: The patient, male, 5 years and 10
months old, was admitted to hospital due to motor and language development retarding for more than 5 years and social communication impairment for more than 2 years. The children presented with intellectual disability,autism spectrum, developmental delay, special facial features, hydrocele of testis, cryptorchidism and testicular microlithiasis. Genetic examination report shows that the child carries a heterozygous pathological mutation of ADNP gene: ADNP (NM_015333.9) Exon3: c.56_57delTG: p.(Val19fs), which is not found in either parent.And this gene mutation site has not been reported. A total of 102 children (including this case) were found in the literature, with an average age of 6.3 years and a male to female ratio being 3:2. All children were reported to have mild to severe intellectual impairment and severe language and motor retardation. Autism spectrum disorders and characteristic facial appearance are also common. Conclusion: HVDAS is a rare autosomal dominant neurodevelopment disorder. The possibility of HVDAS should be clinically considered in children with developmental retardation, autism spectrum disorder and specific features. Gene sequencing should be performed as early as possible, and the detection of ADNP gene variation in genetic testing can make a clear diagnosis.
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Received: 12 April 2023
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