Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome

Kathryn Anne Mooneyham, Kenton R. Holden, Sara Cathey, Alka Dwivedi, Barbara R. Dupont, Michael J. Lyons

Research output: Contribution to journalArticlepeer-review

Abstract

Microduplication of chromosome 17p13.1 is a rarely reported chromosome abnormality associated with neurodevelopmental delays. We describe two unrelated patients with overlapping microduplications of chromosome 17p13.1. The first patient is a 2-year-old male who presented with neurodevelopmental delays and macrocephaly. He was found to have a de novo 788kb copy gain of 17p13.2p13.1 and a de novo 134kb copy gain of 17p13.1. These duplications include multiple candidate genes, including EFNB3, NLGN2, DLG4, GABARAP, and DULLARD, which may be responsible for neurodevelopmental delays in affected individuals. The second patient is a 29-year-old female with mild intellectual disability and relative macrocephaly. She was found to have a 62.5kb copy gain of chromosome 17p13.1 that includes the DLG4, GABARAP, and DULLARD genes. The DLG4, GABARAP, and DULLARD genes included in the microduplications of both our patients appear to be candidate genes for neurodevelopmental delays and macrocephaly in individuals with 17p13.1 microduplication syndrome.

Original languageEnglish (US)
Pages (from-to)2887-2891
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number11
DOIs
StatePublished - Nov 1 2014
Externally publishedYes

Keywords

  • 17p13.1
  • Duplication
  • Macrocephaly
  • Neurodevelopmental delays

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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