Short Stature Tied to Low-Frequency, Rare Gene Deletions

Children with short stature have greater copy-number variant length, global burden of CNVs

MONDAY, Nov. 28 (HealthDay News) -- Short stature is associated with an increased global burden of copy-number variants (CNVs) as well as a greater average length of CNVs for lower-frequency and rare deletions, according to a report published online Nov. 23 in the American Journal of Human Genetics.

Andrew Dauber, M.D., from the Children's Hospital Boston, and colleagues investigated whether CNVs contributed toward genetic variation in stature. A total of 4,411 individuals, aged 2 to 20 years, who underwent comparative genomic hybridization microarray analysis for clinical indications, were included in this genome-wide association study. Tall and short cases had age- and height-adjusted z scores greater than +2 and less than −2 standard deviations, respectively; whereas those with z scores between +2 and −2 standard deviations were used as controls. The study was then extended to a population-based cohort, which included 6,892 individuals.

The investigators found that the children with short stature had significantly greater average CNV length and a significantly greater global burden than controls. These associations were not significant for duplications, but were found for lower-frequency and rare deletions. These associations with CNV were not accounted for by known gene-deletion syndromes. No significant association was found for tall stature. Extending the findings to the population-based cohort showed that a significantly increased burden of lower-frequency deletions was associated with short stature.

"Our results suggest that in individuals undergoing copy-number analysis for clinical indications, short stature increases the odds that a low-frequency deletion will be found. Additionally, copy-number variation might contribute to genetic variation in stature in the general population," the authors write.

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