ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion.

ABSTRACT:

Context

Nuclear hormone receptors exert their transcriptional effects through shared cofactor molecules; thus, defects in such intermediate proteins may be associated with multiple hormone resistance. Microdeletion of small chromosomal segments results in hereditary or sporadic diseases by affecting expression of residing genes.

Objectives

We describe a 7-yr-old boy with partial resistance to glucocorticoids, thyroid hormones, and possibly androgens. He was diagnosed as being in the autism spectrum disorder and had developmental delay and several facial morphological manifestations. We explored genes responsible for multiple hormone resistance of this case.

Results

We found in this patient an approximately 1.1-Mb heterozygous 16p11.2 microdeletion, which included an a

SUBMITTER: Kino T 

PROVIDER: S-EPMC3410270 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature