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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&gt;A;g.6120C&gt;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 homozygous. A wild-type minigene produced alternative transcripts; one utilized the normal splice site between intron 1 and exon 2, the other a cryptic splice site in exon 2. Mutant  SHOX  minigene generated only the smaller transcript. The exon 2 acceptor splice site is weak; an alternative transcript is normally produced using a downstream cryptic splice site. The c.-432-3C&gt;A mutation causes further weakening, and the cryptic splice site is preferentially utilized, resulting in  SHOX  deficiency and short stature.

journal of pediatric endocrinology and metabolism/journal of pediatric endocrinology and metabolism

A novel intronic mutation in  SHOX  causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells