TY - JOUR
T1 - Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome
AU - Mooneyham, Kathryn Anne
AU - Holden, Kenton R.
AU - Cathey, Sara
AU - Dwivedi, Alka
AU - Dupont, Barbara R.
AU - Lyons, Michael J.
N1 - Publisher Copyright:
© 2014 Wiley Periodicals, Inc.
PY - 2014/11/1
Y1 - 2014/11/1
N2 - 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.
AB - 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.
KW - 17p13.1
KW - Duplication
KW - Macrocephaly
KW - Neurodevelopmental delays
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U2 - 10.1002/ajmg.a.36708
DO - 10.1002/ajmg.a.36708
M3 - Article
C2 - 25123844
AN - SCOPUS:84911414434
SN - 1552-4825
VL - 164
SP - 2887
EP - 2891
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 11
ER -