ClinGen Dosage Sensitivity Curation Page

16p12.2 recurrent region (includes OTOA) (distal region)

  • Curation Status: Complete


Location Information

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Haploinsufficiency phenotype comments:

Deletions of this region have been reported in association with autosomal recessive nonsyndromic deafness (PMID:19888295; 20301607)(OMIM: 607039). The critical gene within this region is OTOA. The overall evidence that OTOA, when altered, causes autosomal recessive nonsyndromic deafness was assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE after primary curation.

  • Triplosensitivity score: Triplosensitivity unlikely
  • Strength of Evidence (disclaimer): Triplosensitivity unlikely

Triplosensitivity phenotype comment:

At this time there is no data to support that duplication of this region is clinically significant. A large-scale case control study (PMID: 21841781) comparing children, referred for clinical array testing due to developmental delay and other anomalies, and adult controls found that the duplication of this region was present at a similar frequency in patients (25/15,767; 0.158%) and controls (18/8,329; 0.216%).