NM_152732.5(RSPH9):c.801_803GAA[1] (p.Lys268del) AND Ciliary dyskinesia, primary, 12

Significance: Pathogenic
ClinVar: RCV000057516

Variant: NM_152732.5(RSPH9):c.801_803GAA[1] (p.Lys268del)

Type: Variant
Allele: NM_152732.5(RSPH9):c.801_803GAA[1] (p.Lys268del) 77879
Type: Microsatellite
Location: Chr6: 43670922 - 43670924 - assembly GRCh38
Chr6: 43638659 - 43638661 - assembly GRCh37
References: dbSNP: 397515340
OMIM: 612648.0002
OMIM: 612648.0001


Disease: Ciliary dyskinesia, primary, 12


    In all 7 affected individuals from 2 consanguineous Bedouin families with primary ciliary dyskinesia (CILD12; 612650), Castleman et al. (2009) identified a homozygous 3-bp deletion (801delGAA) in the RSPH9 gene, predicted to result in an in-frame loss of lys268 at the C terminus. The patients had classic respiratory features of CILD, but no situs abnormalities. Electron microscopic studies in 1 family showed absence of the central microtubule pair of the ciliary axoneme. Studies of the mutation in Chlamydomonas showed that it resulted in immotile flagella or flagella with a slowed, disorganized beat ineffective for normal movement. The mutation was not identified in 126 Bedouin and Arabic control chromosomes, but was found in the heterozygous state in 3 (0.7%) of 160 unrelated controls from the United Arab Emirates, which was considered to be consistent given the high incidence of consanguinity in this culturally isolated region.