Pierre Robin Sequence (PRS), a collection of clinical features consisting of mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to obstructive apnea and feeding difficulties, was first described in 1923 by P. Robin. (PMIDs: 8171154, 23799581). PRS can present in isolation as well as in association with various conditions such as Stickler syndrome. Evidence supporting the SOX9-Pierre Robin Sequence gene disease relationship includes segregation data and experimental evidence including a mouse model. Deletions in the non-coding region of SOX9 have been identified in patients with PRS (PMIDs: 19234473, 23532965, 24934569). These variants have been found to cause reduced expression of SOX9 and KCNJ2 (PMIDs: 19234473, 17551083). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This classification was approved by the Skeletal Disorders Gene Curation Expert Panel on 8/3/2020.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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