Ontology highlight
ABSTRACT:
SUBMITTER: Danzig J
PROVIDER: S-EPMC7261515 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Danzig Jennifer J Levine Michael A MA
Journal of pediatric endocrinology & metabolism : JPEM 20120101 9-10
SHOX, the short stature homeobox-containing gene, encodes a critical regulatory protein controlling long bone growth. We examined patients in one family, identified an intronic mutation, and expressed SHOX minigenes in HEK293T cells to characterize the effect on gene splicing. We identified a novel mutation at position -3 (c.-432-3C>A;g.6120C>A) of the intron 1 splice acceptor site; three short (height Z-score -2.4 to -1.7) children were heterozygous and the father (height Z-score -3.4) was homo ...[more]