TARP syndrome

Definition:

TARP syndrome is a disorder marked by early lethality. It comprises Talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava. It is inherited in an X-linked recessive pattern. Expression analysis of mouse orthologue of the causative gene revealed that the gene is expressed in the parts where malformations in TARP syndrome are observed, such as in the branchial arches and in the limb/tail bud regions.

References:

[1]. Jennifer J Johnston, et al. Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet. 2010 May 14;86(5):743-8. [Content Brief]

[2]. Karen W Gripp, et al. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. Am J Med Genet A. 2011 Oct;155A(10):2516-20. [Content Brief]

[3]. Kyle T Kurpinski, et al. Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. Am J Med Genet A. 2003 Jul 1;120A(1):1-4. [Content Brief]

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