Article
Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
European journal of medical genetics - 1 Mar 2018
Córdova-Fletes Carlos, Becerra-Solano Luis E, Rangel-Sosa Martha M, Rivas-Estilla Ana María, Alberto Galán-Huerta Kame, Ortiz-López Rocío, Rojas-Martínez Augusto, Juárez-Vázquez Clara I, García-Ortiz José E
Abstract excerpt
We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8; c.1069G > C; p.Asp357His) and WDR35 (exon 13; c.1415G > A; p.Arg472Gln) as revealed by homozygosity mapping and next...
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