Citation

Damerow JA, Tervo RC, Ehrhardt M, Panoskaltsis-Mortari A, Symons FJ. Dev. Psychopathol. 2019; 31(2): 433-438.

Affiliation

University of Minnesota.

Copyright

(Copyright © 2019, Cambridge University Press)

DOI

10.1017/S0954579418000718

PMID

30009717

Abstract

The proopiomelanocortin (POMC) molecule has been implicated in models of self-injurious behavior (SIB) in neurodevelopmental disorders, but it has never been specifically sequenced in search of base specific polymorphisms. The empirical focus of this preliminary study was to sequence the POMC gene in 11 children (mean age = 41.8 months, range = 12-60 months; 73% male) with clinical concerns regarding global developmental delay, 5 with reported self-injury. Genomic DNA was extracted from blood samples, and the POMC gene was amplified by specific oligonucleotide primers via polymerase chain reaction. The amplified gene products were sequenced by the University of Minnesota Genomic Center, and the results were analyzed using Sequencher software. A single nucleotide polymorphism (SNP), 1130 C>T, was found in the 3' untranslated region (UTR) of two samples (one of whom had SIB). The program TargetScanHuman was used to predict the function of this mutation. Variant c.1130 C

Language: en