Article
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.
American journal of medical genetics. Part A - 1 Mar 2016
Rajagopalan Ramakrishnan, Grochowski Christopher M, Gilbert Melissa A, Falsey Alexandra M, Coleman Karlene, Romero Rene, Loomes Kathleen M, Piccoli David A, Devoto Marcella, Spinner Nancy B
Abstract excerpt
We studied two brothers who presented in the newborn period with cardiac, renal, and hepatic anomalies that were initially suggestive of ALGS, although no mutations in JAG1 or NOTCH2 were identified. Exome sequencing demonstrated compound heterozygous mutations in the NEK8 gene (Never in mitosis A-related Kinase 8), a ciliary kinase indispensable for cardiac and renal development based on murine studies. The...
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