Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey

Am J Med Genet A. 2023 Feb;191(2):617-623. doi: 10.1002/ajmg.a.63024. Epub 2022 Nov 3.


Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) is a congenital disease of glycosylation (CDG) linked to the ALG9 gene. GIKANIS is a lethal disorder characterized by atypical facial features, generalized skeletal changes with shortening of the long bones with broad, round metaphyses, round ilia, and deficient ossification of the skull, cervical spine and pubic bones, and visceral abnormalities including polycystic kidneys and congenital cardiac defects. GIKANIS is caused by a homozygous splicing variant (c.1173 + 2 T > A) leading to skipping of exon 10, frameshift, and premature termination codon of the ALG9 gene. To our best knowledge, only two affected families with confirmed molecular analyses have been reported. We present an additional report on two siblings with the same mutation, emphasizing the prenatal ultrasonographic features. Their facial and skeletal manifestations recapitulated those previously reported. Ultrasonography revealed polycystic kidneys and unbalanced atrioventricular septal defect (AVSD) with transposition of the great arteries.

Keywords: ALG9; Gillessen-Kaesbach-Nishimura syndrome; polycystic kidney; prenatal diagnosis; skeletal dysplasia; whole exom sequencing.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Fetus / diagnostic imaging
  • Humans
  • Mutation
  • Polycystic Kidney, Autosomal Recessive*
  • Pregnancy
  • Transposition of Great Vessels*
  • Turkey

Supplementary concepts

  • Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia