Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report
BackgroundHelsmoortel–van der Aa syndrome, also known as ADNP syndrome, is a condition that causes developmental delay, language impairment, autism spectrum, and variable extraneurologic features. It is caused by heterozygous mutations in the ADNP gene on chromosome 20q13. Most of the genetic causes...
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1122513/full |
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| author | Li-juan Chen Zhong-min You Wen-hong Chen Si Yang Chun-chen Feng Hai-yong Wang Ting Wang Yuan-yuan Zhu |
| author_facet | Li-juan Chen Zhong-min You Wen-hong Chen Si Yang Chun-chen Feng Hai-yong Wang Ting Wang Yuan-yuan Zhu |
| author_sort | Li-juan Chen |
| collection | DOAJ |
| description | BackgroundHelsmoortel–van der Aa syndrome, also known as ADNP syndrome, is a condition that causes developmental delay, language impairment, autism spectrum, and variable extraneurologic features. It is caused by heterozygous mutations in the ADNP gene on chromosome 20q13. Most of the genetic causes of Helsmoortel–van der Aa syndrome have been reported are as de novo nonsense or frameshift stop mutations in exon 5 of ADNP gene, while fewer truncating variants were discovered in exons 4 and the 5′ end of exon 5.MethodsIn our study, a 4-year-old female Chinese patient was reported with delayed psychomotor development, language impairment, ataxia, anxiety, aggressive behavior, and congenital heart defect. Trio whole exome sequencing and copy number variation sequencing were performed.ResultsA novel de novo heterozygous pathogenic mutation c.568C > T (p.Gln190Ter) was identified in the ADNP gene of the proband. His unaffected parents did not have the variant. According to the American College of Medical Genetics (ACMG) guidelines, c.568C > T was classified as “pathogenic”.ConclusionOur report indicated that c.568C > T (p.Gln190Ter) in ADNP gene is the cause of abnormal development of the nervous system, congenital heart disease and strabismus, broadening the spectrum of ADNP gene mutations associated with Helsmoortel–van der Aa syndrome. |
| first_indexed | 2024-04-09T20:39:14Z |
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| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-09T20:39:14Z |
| publishDate | 2023-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-90282b0a96a6481889231baee9efe35f2023-03-30T06:00:22ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-03-011110.3389/fped.2023.11225131122513Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case reportLi-juan Chen0Zhong-min You1Wen-hong Chen2Si Yang3Chun-chen Feng4Hai-yong Wang5Ting Wang6Yuan-yuan Zhu7Department of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, ChinaDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, ChinaDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, ChinaDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, ChinaDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, ChinaDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, ChinaDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, ChinaDepartment of Marketing, Aegicare (Shenzhen) Technology Co., Ltd., Shenzhen, ChinaBackgroundHelsmoortel–van der Aa syndrome, also known as ADNP syndrome, is a condition that causes developmental delay, language impairment, autism spectrum, and variable extraneurologic features. It is caused by heterozygous mutations in the ADNP gene on chromosome 20q13. Most of the genetic causes of Helsmoortel–van der Aa syndrome have been reported are as de novo nonsense or frameshift stop mutations in exon 5 of ADNP gene, while fewer truncating variants were discovered in exons 4 and the 5′ end of exon 5.MethodsIn our study, a 4-year-old female Chinese patient was reported with delayed psychomotor development, language impairment, ataxia, anxiety, aggressive behavior, and congenital heart defect. Trio whole exome sequencing and copy number variation sequencing were performed.ResultsA novel de novo heterozygous pathogenic mutation c.568C > T (p.Gln190Ter) was identified in the ADNP gene of the proband. His unaffected parents did not have the variant. According to the American College of Medical Genetics (ACMG) guidelines, c.568C > T was classified as “pathogenic”.ConclusionOur report indicated that c.568C > T (p.Gln190Ter) in ADNP gene is the cause of abnormal development of the nervous system, congenital heart disease and strabismus, broadening the spectrum of ADNP gene mutations associated with Helsmoortel–van der Aa syndrome.https://www.frontiersin.org/articles/10.3389/fped.2023.1122513/fullHelsmoortel–van der Aa syndromeADNPdevelopmental delayautism spectrum disordercase report |
| spellingShingle | Li-juan Chen Zhong-min You Wen-hong Chen Si Yang Chun-chen Feng Hai-yong Wang Ting Wang Yuan-yuan Zhu Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report Frontiers in Pediatrics Helsmoortel–van der Aa syndrome ADNP developmental delay autism spectrum disorder case report |
| title | Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report |
| title_full | Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report |
| title_fullStr | Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report |
| title_full_unstemmed | Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report |
| title_short | Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report |
| title_sort | helsmoortel van der aa syndrome in a chinese pediatric patient due to adnp nonsense mutation a case report |
| topic | Helsmoortel–van der Aa syndrome ADNP developmental delay autism spectrum disorder case report |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1122513/full |
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