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.
Artículo
en Chino
| WPRIM
| ID: wpr-1009308
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Anomalías Múltiples
/
Proteínas de Homeodominio
/
Enfermedades Raras
/
Trastornos del Crecimiento
/
Discapacidad Intelectual
/
Mutación
/
Proteínas del Tejido Nervioso
Límite:
Child, preschool
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Artículo
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