Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family

Taiwan J Obstet Gynecol. 2021 Sep;60(5):907-910. doi: 10.1016/j.tjog.2021.07.022.

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.

Keywords: ASPM; Exome sequencing; MCPH5; Microcephaly primary hereditary.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian People / ethnology
  • Asian People / genetics
  • Child
  • Female
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Microcephaly / diagnostic imaging
  • Microcephaly / genetics*
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Pregnancy
  • Prenatal Diagnosis
  • Vietnam

Substances

  • ASPM protein, human
  • Nerve Tissue Proteins

Supplementary concepts

  • Autosomal Recessive Primary Microcephaly
  • Microcephaly, Primary Autosomal Recessive, 5