Abstract
There are innumerable causes of enlarged kidneys along with dysmorphism in the foetus. Various chromosomal microdeletion syndromes, ciliopathies, Zellweger syndrome, Perlman syndrome and congenital disorders of glycosylation. CDG are a large group of syndromes which cause disruption of one of the several synthetic pathways of glycan synthesis. Here, we describe an unusual and extremely rare presentation cause of enlarged foetal kidneys due to a novel missense variant causing Gillessen-Kaesbach–Nishimura syndrome. The role of deep phenotyping is emphasised as it is a pre-requisite for making a diagnosis and establishing a given mutation as pathogenic. The genetic and clinic aspects of the previously published data are also reviewed.
References
Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med. 2013;369:1502–11.
Gillessen-Kaesbach G, Meinecke P, Garrett C, et al. New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. Am J Med Genet. 1993;45:511–8.
Nishimura G, Nakayama M, Fuke Y. A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. Pediatr Radiol. 1998;28:43–7.
Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, et al. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9. Eur J Hum Genet. 2016;24(2):198–207.
AlSubhi S, AlHashem A, AlAzami A, Tlili K, AlShahwan S, Lefeber D, et al. Further delineation of the ALG9-CDG phenotype. JIMD Rep. 2016;27:107–12.
Jaeken J, Matthijs G. Congenital disorders of glycosylation. Annu Rev Genomics Hum Genet. 2001;2:129–51.
Grunewald S, Matthijs G, Jaeken J. Congenital disorders of glycosylation: a review. Pediatr Res. 2002;52(5):618–24.
Freeze HH. Genetic defects in the human glycome. Nat Rev Genet. 2006;7:537–51.
Erik A, Eklund EA, Freeze HH, et al. The congenital disorders of glycosylation: a multifaceted group of syndromes. NeuroRx. 2006;3(2):254–63.
Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M, Hennet T. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. Am J Hum Genet. 2004;75:146–50.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Rights and permissions
About this article
Cite this article
Arora, V., Shah, N., Khatter, S. et al. ALG9 Associated Gillessen-Kaesbach–Nishimura Syndrome (GIKANIS): An Uncommon Aetiology of Enlarged Foetal Kidneys. J. Fetal Med. 5, 237–239 (2018). https://doi.org/10.1007/s40556-018-0183-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s40556-018-0183-1