Helsmoortel-Van der Aa syndrome due to hotspot mutation of ADNP gene and a literature review / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1382-1386, 2023.
Article
em Zh
| WPRIM
| ID: wpr-1009308
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#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.
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Índice:
WPRIM
Assunto principal:
Anormalidades Múltiplas
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Proteínas de Homeodomínio
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Doenças Raras
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Transtornos do Crescimento
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Deficiência Intelectual
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Mutação
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Proteínas do Tecido Nervoso
Limite:
Child, preschool
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Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2023
Tipo de documento:
Article