An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease

Priyanka Arya, Theodore E. Wilson, John J. Parent, Stephanie M. Ware, Amy M. Breman, Benjamin M. Helm

Research output: Contribution to journalArticle

Abstract

Terminal and interstitial deletions of the 5q35 region have been rarely reported in the literature. While a delineated phenotype has been suggested, the range of clinical presentations is unknown due to overall rarity. Cardiac features are of interest because haploinsufficiency of the NKX2-5 gene, located at 5q35.1, has been implicated in congenital heart defects with or without conduction disease. Previous case reports of similar deletions included primarily infants and young children and longitudinal clinical and developmental phenotypic data are currently lacking. We report on a 24-year-old female, the first described adult case with an interstitial 5q34-q35.2 deletion and the third reported case where the cytogenetic abnormality is specified using chromosomal microarray analysis. We include details of her cardiac, developmental, and craniofacial phenotypes. The patient is diagnosed with mild intellectual disability, autism spectrum disorder, limitations in fine and gross motor skills, minor malformations of facial features, and a cardiac phenotype with conduction disease, congenital heart disease, and left ventricular non-compaction dilated cardiomyopathy. This report also reviews the overlapping features in previously published 5q35 deletions and, importantly, provides deeper insight into distal 5q deletions.

Original languageEnglish (US)
Article number103797
JournalEuropean Journal of Medical Genetics
DOIs
StateAccepted/In press - Jan 1 2019

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Heart Diseases
Phenotype
Haploinsufficiency
Motor Skills
Congenital Heart Defects
Dilated Cardiomyopathy
Microarray Analysis
Chromosome Aberrations
Intellectual Disability
Genes
Monosomy 5q35 Chromosome 5
Autism Spectrum Disorder

Keywords

  • 5q deletion
  • 5q34-q35.2 deletion
  • Autism spectrum disorder
  • Left ventricular non-compaction cardiomyopathy (LVNC)
  • NKX2-5

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

An adult female with 5q34-q35.2 deletion : A rare syndromic presentation of left ventricular non-compaction and congenital heart disease. / Arya, Priyanka; Wilson, Theodore E.; Parent, John J.; Ware, Stephanie M.; Breman, Amy M.; Helm, Benjamin M.

In: European Journal of Medical Genetics, 01.01.2019.

Research output: Contribution to journalArticle

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