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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2018; 05(04): 237-239
DOI: 10.1007/s40556-018-0183-1
Brief Communication

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

Veronica Arora
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Nupur Shah
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Sangeeta Khatter
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Ratna Dua Puri
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Reema Kumar
3   Department of Obstetrics and Gynecology, Army Hospital Research and Referral, New Delhi, India
,
Pallav Gupta
2   Department of Histopathology, Sir Gangaram Hospital, New Delhi, India
,
Sunita Bijarnia-Mahay
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Ishwar Chander Verma
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
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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


Publication History

Received: 29 March 2018

Accepted: 18 July 2018

Article published online:
08 May 2023

© 2018. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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