Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family.
Taiwan J Obstet Gynecol
; 60(5): 907-910, 2021 Sep.
Article
em En
| MEDLINE
| ID: mdl-34507672
ABSTRACT
OBJECTIVE:
MCPH (microcephaly primary hereditary) is a group of autosomal recessive developmental disorders with microcephaly present at birth and intellectual disability. Since a second trimester ultrasound is not able to detect subtypes with minimal prenatal presentations, only prenatal diagnosis by genetic testing can confirm these cases and allow for effective genetic counseling, especially a family with a previously affected child. CASE REPORT A 37-year-old women was pregnant for the third time and had two prior children with profound microcephaly and mental retardation. Targeted panel sequencing identified novel compound heterozygous ASPM pathogenic variants c.1615_1616del (p. Glu539ArgfsTer15); c.∗293T > A (p. Leu98Ter), which confirmed the diagnosis of MCPH5 (#OMIM 608716). Genetic testing was conducted for family members and applied on prenatal diagnosis.CONCLUSION:
This is the first cases of MCPH5 to be reported in Vietnam and the genetic result aided in prenatal diagnosis of a high-risk pregnancy. The study highlights the importance of genetic testing in defining definitive diagnosis which allowed for timely prenatal diagnosis and genetic counseling for the family.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiência Intelectual
/
Microcefalia
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Newborn
/
Pregnancy
País/Região como assunto:
Asia
Idioma:
En
Revista:
Taiwan J Obstet Gynecol
Assunto da revista:
GINECOLOGIA
/
OBSTETRICIA
Ano de publicação:
2021
Tipo de documento:
Article