BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency

Annals of Clinical Biochemistry

Volumn 49, Issue 2, 2012, Pages 201-203

  Lynn, Adrienne M ^a   King, Richard I ^b   Mackay, Richard J ^b   Florkowski, Chris M ^b   Wilson, Callum J ^c  

^a CHRISTCHURCH WOMEN S HOSPITAL   (New Zealand)

^b CANTERBURY HEALTH LABORATORIES   (New Zealand)

^c STARSHIP CHILDREN S HOSPITAL   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

DIAZOXIDE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BCS1L GENE; CASE REPORT; CLINICAL FEATURE; COMPLEX III DEFICIENCY; GENE; GENE DELETION; GENE MUTATION; GRACILE SYNDROME; HUMAN; HYPERINSULINISM; HYPOGLYCEMIA; INTRAUTERINE GROWTH RETARDATION; IRON OVERLOAD; LACTIC ACIDOSIS; LIVER BIOPSY; MALE; MUSCLE BIOPSY; NEWBORN; OLIGOHYDRAMNIOS; PATHOGENICITY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN;

ELECTRON TRANSPORT COMPLEX III; HUMANS; INFANT, NEWBORN; MALE; MUTATION; SYNDROME;

EID: 84861518276     PISSN: 00045632     EISSN: 17581001     Source Type: Journal    
DOI: 10.1258/acb.2011.011180     Document Type: Article

References (9)

1. Visapaa I, Fellman V, Vesa J, et al. GRACILE syndrome a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 2002;71:863-76
2. Morris AA, Taylor RW, Birch-Machin MA, et al. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol 1995;9:407-11
3. Kotarsky H, Karikoski R, Morgelin M, et al. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion 2010;10:497-509
4. Ramos-Arroyo MA, Hualde J, Ayechu A, et al. Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene [letter]. Clin Genet 2009;75:585-7
5. Fellman V, Rapola J, Pihko H, et al. Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. Lancet 1998;351:490-3
6. Fellman V. The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. Blood Cells Mol Dis 2002;29:444-50
7. Rapola J, Heikkila P, Fellman V. Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE). Pediatr Pathol Mol Med 2002;21:183-93
8. De Lonlay P, Valnot I, Barrientos A, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 2001;29:57-6.
9. De Meirlier L, Seneca S, Damis E, et al. Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. Am J Hum Med Genet 2003;121A:126-31