Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family
| Autor: | Oanh Thi Lan Dinh, Thanh Van Ta, Thinh Huy Tran, The-Hung Bui, My Ha Cao, Long Hoang Luong, Quang Minh Diep, Van Anh Pham, Van Khanh Tran |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Exome sequencing Microcephaly Pediatrics medicine.medical_specialty Genetic counseling ASPM Nerve Tissue Proteins Prenatal diagnosis Compound heterozygosity Asian People Pregnancy Intellectual Disability Prenatal Diagnosis Intellectual disability medicine Humans Child Microcephaly primary hereditary Genetic testing medicine.diagnostic_test business.industry Infant Newborn Obstetrics and Gynecology Gynecology and obstetrics medicine.disease Vietnam MCPH5 Mutation RG1-991 Female business |
| Zdroj: | Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 5, Pp 907-910 (2021) |
| ISSN: | 1028-4559 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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