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HDAC4 and 2q37 Deletion Syndrome 

HDAC4 and 2q37 Deletion Syndrome
Chapter:
HDAC4 and 2q37 Deletion Syndrome
Author(s):

Trang Le

and Sarah Elsea

DOI:
10.1093/med/9780199934522.003.0155
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date: 25 February 2021

2q37 deletion syndrome, also described in the literature as brachydactyly-mental retardation syndrome (MIM 600430), is caused by deletion or haploinsufficiency of the HDAC4 gene encoding histone deacetylase 4. This disorder is comprised of a constellation of clinical findings that may include developmental delay, obesity, autistic features, and craniofacial or skeletal dysmorphism, and brachydactyly type E. These features, which may be incompletely penetrant, can appear with varying degrees of severity in affected individuals. Additionally, due to the existence of several phenocopies, most notably Smith-Magenis syndrome (MIM 182290), accurate molecular diagnosis can be challenging and may require serial genetic testing for both the affected individuals and their parents.

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