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1036 Gracile Syndrome in a Turkish Newborn Infant Caused by a Homozygous Mutation (P99L) in Complex Iii Assembly Factor BCS1L
  1. E Serdaroglu1,
  2. S Takci2,
  3. H Kotarsky3,
  4. O Cil1,
  5. E Utine4,
  6. S Yigit2,
  7. V Fellman5,6
  1. 1Department of Pediatrics
  2. 2Department of Pediatrics, Division of Neonatology, Hacettepe University, Ankara, Turkey
  3. 3Department of Pediatrics, Clinical Sciences, Lund University, Lund, Sweden
  4. 4Department of Pediatrics, Division of Medical Genetics, Hacettepe University, Ankara, Turkey
  5. 5Department of Pediatrics, Lund University and Skåne University Hospital Lund, Lund, Sweden
  6. 6Department of Pediatrics, University of Helsinki, Helsinki University Central Hospital, Helsinki, Finland

Abstract

Background and Aim GRACILE syndrome, a neonatal, autosomally recessive disorder found in Finland, featuring growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death, is caused by a homozygous mutation (S78G) in BCS1L, the assembly factor for respiratory chain complex III. We investigated a newborn Turkish girl with similar symptoms. Her two sisters with low birth weight, metabolic acidosis, cholestasis and renal Fanconi syndrome, had died at 18 and 105 days age, respectively.

Methods and results The girl was born to healthy nonconsanguineous parents. She was growth retarded (1789 g at term), developed tachypnea and metabolic acidosis on day one. Lactic acidosis, jaundice with direct hyperbilirubinemia, nonspecific aminoaciduria, high phosphaturia, proteinuria and glucosuria were detected. Serum iron (190 mcg/dl), ferritin (2819 ng/ml) and transferrin saturation (99.4%) were increased. Metabolic, cardiologic and sonographic workup were otherwise normal. Because of similarities with GRACILE syndrome, the BCS1L gene was investigated. The Finnish SNP was not found, but gene sequencing revealed a homozygous mutation resulting in an amino acid exchange (P99L) in the protein.

Conclusions The studied infant had a GRACILE-like disorder caused by a different mutation than that in newborns of Finnish ancestors. Most likely the two diseased siblings had the same homozygous BCS1L mutation that previously has been published in three other newborns or Turkish origin. We proposed that P99L-mutation in BCS1L is a Turkish genotype resulting in GRACILE syndrome phenotype, and should be investigated in Turkish newborns with the typical clinical features.

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