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Article

De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.

American journal of medical genetics. Part A - 1 Mar 2022

Safgren Stephanie L, Olson Rory J, Pinto E Vairo Filippo, Bothun Erick D, Hanna Christian, Klee Eric W, Schimmenti Lisa A

Abstract excerpt

An infant was referred for evaluation of congenital glaucoma and corneal clouding. In addition, he had a pelvic kidney, hypotonia, patent ductus arteriosus, abnormal pinnae, and developmental delay. Exome sequencing identified a previously unpublished de novo single nucleotide insertion in PBX1 c.400dupG (NM_002585.3), predicted to cause a frameshift resulting in a truncated protein with loss of function...

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PMID: 34797033
DOI: 10.1002/ajmg.a.62576

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