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Prenatal clinical manifestations in individuals with COL4A1/2 variants

Toshiyuki Itai1, Satoko Miyatake1,2, Masataka Taguri3

  • 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.

Journal of Medical Genetics
|August 1, 2020
PubMed

Insights

Genetic variants in type IV collagen genes (COL4A1/2) can cause early-onset cerebrovascular disease. Prenatal ultrasound findings like ventriculomegaly and growth restriction may indicate COL4A1/2 variants, warranting genetic testing.

Area of Science:

  • Genetics
  • Neurology
  • Prenatal Medicine

Background:

  • Type IV collagen genes (COL4A1/2) are linked to early-onset cerebrovascular diseases.
  • Prenatal features associated with COL4A1/2 variants are not well-defined, leading to postnatal diagnoses.

Purpose of the Study:

  • To investigate the prenatal and postnatal clinical features of individuals with COL4A1/2 variants.
  • To identify specific prenatal ultrasound findings suggestive of COL4A1/2-related brain defects.

Main Methods:

  • Examined 218 individuals with suspected COL4A1/2-related brain defects.
  • Focused on individuals with prenatal ultrasound abnormalities and validated their clinical features.

Main Results:

  • Detected pathogenic COL4A1/2 variants in 25.7% of individuals, with porencephaly and schizencephaly being common.
  • Prenatal abnormalities were present in 68.1% of affected individuals, with ventriculomegaly (62.5%) and fetal growth restriction (33%) being most frequent.
  • Specific suggestive prenatal findings were identified in only 14 individuals, highlighting diagnostic challenges.

Conclusions:

  • Prenatal diagnosis of ventriculomegaly with fetal growth restriction should prompt further investigation.
  • Consider COL4A1/2 gene testing when pathogenic variants are suspected based on prenatal findings.
Abstract

Keywords:
diagnosticsepilepsy and seizuresgeneticsneurologyobstetrics and gynaecology

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