IVIC syndrome

Definition:

The IVIC syndrome is an autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. It is caused by mutations in the SALL4. SALL4 encodes a transcription factor with a wide expression in early embryogenesis, and later expression restricted to adult testis and ovary.

References:

[1]. Irene Paradisi, et al. IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. Am J Med Genet A. 2007 Feb 15;143(4):326-32. [Content Brief]

[2]. S Arias, et al. The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. Am J Med Genet. 1980;6(1):25-59. [Content Brief]

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