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

Xena Giada Pappalardo; Martino Ruggieri; Raffaele Falsaperla; Salvatore Savasta; Umberto Raucci; Piero Pavone

doi:10.1055/s-0041-1736458

Journal of Pediatric Genetics, Table of Contents

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

¹Unit of Catania, Institute for Biomedical Research and Innovation, National Council of Research, Catania, Italy

²Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy

,

Martino Ruggieri

³Section 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

⁴Unit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU “Policlinico,” PO “San Marco,” University of Catania, Catania, Italy

,

Salvatore Savasta

⁵Pediatric Clinic, IRCCS Policlinico S. Matteo Foundation, Pavia, Italy

,

Umberto Raucci

⁶Pediatric Intensive Care Unit, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy

,

Piero Pavone

⁴Unit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU “Policlinico,” PO “San Marco,” University of Catania, Catania, Italy

› Author Affiliations

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

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References

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