Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Leri-Weill dyschondrosteosis.

ABSTRACT:

Background

SHOX enhancer CNVs, affecting one or more of the seven recognized evolutionary conserved non-coding elements (CNEs) represent one of the most frequent cause of SHOX-haploinsufficiency. During the diagnostic workflow deletions/duplications have been identified downstream SHOX not including any of the these CNEs.

Methods

Fine tiling aCGH and breakpoint PCR were used to characterize the critical interval and to search for novel alterations in a cohort of selected patients.

Results

Screening of 252 controls provided evidence that duplications in this area represent likely benign variants whereas none of the deletions were detected. These findings suggested that other alterations relevant for SHOX-haploinsufficiency might be missed by the standard diagnostic met

SUBMITTER: Fanelli A 

PROVIDER: S-EPMC8801136 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature