Verheij syndrome

Definition:

Verheij syndrome is rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay, cardiac and renal defects, and dysmorphic features. Overlapping interstitial microdeletions of chromosome 8q24 have been reported from patients of this disease. Recently, PUF60, which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype.

References:

[1]. J B G M Verheij, et al. An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet. 2009 Sep-Oct;52(5):353-7. [Content Brief]

[2]. Karen J Low, et al. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. Eur J Hum Genet. 2017 May;25(5):552-559. [Content Brief]

[3]. Salima El Chehadeh, et al. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. Eur J Hum Genet. 2016 Jan;25(1):43-51. [Content Brief]

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