title: BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency.
abstract: The clinical presentation of a neonate with GRACILE-like syndrome, complex III deficiency and BCS1L mutations is discussed. This case is compared and contrasted with the original Finnish reports of GRACILE syndrome and other cases with a similar phenotype. This case confirms the pathogenicity of the BCS1L gene mutation c.166C>T, and provides support for the pathogenicity of a sequence variation, c.-588T>A, previously reported.
authors.affiliation: Neonatal Services, Level 4, Christchurch Women’s Hospital, Private Bag 4711, Christchurch 8140, New Zealand. adrienne.lynn@cdhb.govt.nz
authors.forename: Adrienne M
authors.initials: AM
authors.lastname: Lynn
authors.forename: Richard I
authors.initials: RI
authors.lastname: King
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Mackay
authors.forename: Chris M
authors.initials: CM
authors.lastname: Florkowski
authors.forename: Callum J
authors.initials: CJ
authors.lastname: Wilson
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D013577:Syndrome
chemical_list: C435491:BCS1L protein, human; D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III