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Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome
Author(s) -
Mooneyham Kathryn Anne,
Holden Kenton R.,
Cathey Sara,
Dwivedi Alka,
Dupont Barbara R.,
Lyons Michael J.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36708
Subject(s) - macrocephaly , intellectual disability , chromosome , long arm , genetics , gene , down syndrome , biology , gene duplication , medicine
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 788 kb copy gain of 17p13.2p13.1 and a de novo 134 kb 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 62.5 kb 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. © 2014 Wiley Periodicals, Inc.