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Journal of Fetal Medicine

, Volume 5, Issue 4, pp 237–239 | Cite as

ALG9 Associated Gillessen-Kaesbach–Nishimura Syndrome (GIKANIS): An Uncommon Aetiology of Enlarged Foetal Kidneys

  • Veronica Arora
  • Nupur Shah
  • Sangeeta Khatter
  • Ratna Dua Puri
  • Reema Kumar
  • Pallav Gupta
  • Sunita Bijarnia-Mahay
  • Ishwar Chander Verma
Brief Communication
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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.

Keywords

Congenital disorders of glycosylation ALG9 gene Enlarged echogenic cystic kidneys Fetal Autopsy 

Notes

Compliance with Ethical Standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Society of Fetal Medicine 2018

Authors and Affiliations

  • Veronica Arora
    • 1
  • Nupur Shah
    • 1
  • Sangeeta Khatter
    • 1
  • Ratna Dua Puri
    • 1
  • Reema Kumar
    • 3
  • Pallav Gupta
    • 2
  • Sunita Bijarnia-Mahay
    • 1
  • Ishwar Chander Verma
    • 1
  1. 1.Institute of Medical Genetics and GenomicsSir Ganga Ram HospitalNew DelhiIndia
  2. 2.Department of HistopathologySir Gangaram HospitalNew DelhiIndia
  3. 3.Department of Obstetrics and GynecologyArmy Hospital Research and ReferralNew DelhiIndia

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