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J Pediatr Genet 2021; 10(04): 259-265
DOI: 10.1055/s-0041-1736458
Case-Based Review

A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1

Xena Giada Pappalardo 
1   Unit of Catania, Institute for Biomedical Research and Innovation, National Council of Research, Catania, Italy
2   Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy
,
Martino Ruggieri 
3   Section of Pediatrics and Child Neuropsychiatry, Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, AOU “Policlinico,” PO “G. Rodolico,” University of Catania, Catania, Italy
,
Raffaele Falsaperla 
4   Unit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU “Policlinico,” PO “San Marco,” University of Catania, Catania, Italy
,
Salvatore Savasta 
5   Pediatric Clinic, IRCCS Policlinico S. Matteo Foundation, Pavia, Italy
,
Umberto Raucci 
6   Pediatric Intensive Care Unit, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy
,
Piero Pavone 
4   Unit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU “Policlinico,” PO “San Marco,” University of Catania, Catania, Italy
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Abstract

The 4q deletion syndrome is an uncommon condition manifesting with broad clinical expression and phenotypic variability. We report a 5-year-old boy affected by 4q deletion syndrome who showed minor craniofacial features, growth failure, mild developmental delay, severe speech delay, and marked irascibility and aggressivity. Moreover, he showed precocious and crowded primary dentition, digital hyperlaxity, and congenital bilateral adducted thumbs, signs which were previously unreported in the syndrome. The array comparative genomic hybridization analysis revealed a 4q partial terminal deletion of ∼329.6 kb extending from 164.703.186 to 165.032.803 nt, which includes part of MARCH1 (membrane associated ring-CH-type finger 1) gene (OMIM#613331). Same rearrangement was found in his healthy mother. Clinical phenotype of the child and its relationship to the deleted region is presented with a revision of the cases having the same copy number losses from the literature and genomic variant databases.

Keywords

4q deletion syndrome - MARCH1 gene - craniofacial features - marked speech delay - aggressive behavior - precocious dentition - adducted thumbs

Ethical Approval

This study was conducted ethically in accordance with the World Medical Association Declaration of Helsinki and was approved by the ethic committee of the University of Catania, Italy (Ethical Committee Catania 1 Clinical Registration n. 95/2018/PO). Informed consent was obtained from parents of the proband.


Authors' Contributions

X.G.P. and P.P. conceived the manuscript. P.P., M.R., and R.F. worked with and helped gather patient data. P.P. and M.R. drafted and redrafted the present manuscript. X.G.P. helped analyze the genetic data and interpreted the literature relevant to the genomic imbalance. All authors read and approved the final manuscript.




Publication History

Received: 31 May 2021

Accepted: 09 September 2021

Article published online:
02 November 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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