Advanced

A Turkish BCS1L mutation causes GRACILE-like disorder

Serdaroğlu, Esra; Takcı, Şahin; Kotarsky, Heike LU ; Çil, Onur; Utine, Eda; Yiğit, Şule and Fellman, Vineta LU (2017) In Turkish Journal of Pediatrics 58(6). p.658-661
Abstract

A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and elevated serum ferritin concentration (2819 ng/ml). Two similarly affected sisters had died before 3 months of age. Mitochondrial disorder was suspected since the disease resembled the Finnish GRACILE syndrome, caused by a homozygous mutation (c.232A>G) in BCS1L. Thus, we sequenced the BCS1L gene, encoding the assembly factor for respiratory chain complex III. The patient had a homozygous mutation (c.296C>T; p.P99L), for which both parents were heterozygous. In four previously published patients of Turkish origin, the same homozygous mutation resulted in complex III deficiency,... (More)

A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and elevated serum ferritin concentration (2819 ng/ml). Two similarly affected sisters had died before 3 months of age. Mitochondrial disorder was suspected since the disease resembled the Finnish GRACILE syndrome, caused by a homozygous mutation (c.232A>G) in BCS1L. Thus, we sequenced the BCS1L gene, encoding the assembly factor for respiratory chain complex III. The patient had a homozygous mutation (c.296C>T; p.P99L), for which both parents were heterozygous. In four previously published patients of Turkish origin, the same homozygous mutation resulted in complex III deficiency, tubulopathy, encephalopathy, and liver failure. The p.P99L mutation seems to be specific to Turkish population and leads to GRACILE-like or Leigh-like condition. Assembly defects in complex III should be investigated in the affected tissues, since fibroblasts may not exhibit the deficiency.

(Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
BCS1L mutation, GRACILE, Turkish
in
Turkish Journal of Pediatrics
volume
58
issue
6
pages
4 pages
external identifiers
  • scopus:85032742753
  • wos:000415748800013
ISSN
0041-4301
DOI
10.24953/turkjped.2016.06.013
language
English
LU publication?
yes
id
7e274192-c50e-4b33-b9a7-dd85247b605e
date added to LUP
2017-12-01 13:15:38
date last changed
2018-03-03 03:00:08
@article{7e274192-c50e-4b33-b9a7-dd85247b605e,
  abstract     = {<p>A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and elevated serum ferritin concentration (2819 ng/ml). Two similarly affected sisters had died before 3 months of age. Mitochondrial disorder was suspected since the disease resembled the Finnish GRACILE syndrome, caused by a homozygous mutation (c.232A&gt;G) in BCS1L. Thus, we sequenced the BCS1L gene, encoding the assembly factor for respiratory chain complex III. The patient had a homozygous mutation (c.296C&gt;T; p.P99L), for which both parents were heterozygous. In four previously published patients of Turkish origin, the same homozygous mutation resulted in complex III deficiency, tubulopathy, encephalopathy, and liver failure. The p.P99L mutation seems to be specific to Turkish population and leads to GRACILE-like or Leigh-like condition. Assembly defects in complex III should be investigated in the affected tissues, since fibroblasts may not exhibit the deficiency.</p>},
  author       = {Serdaroğlu, Esra and Takcı, Şahin and Kotarsky, Heike and Çil, Onur and Utine, Eda and Yiğit, Şule and Fellman, Vineta},
  issn         = {0041-4301},
  keyword      = {BCS1L mutation,GRACILE,Turkish},
  language     = {eng},
  number       = {6},
  pages        = {658--661},
  series       = {Turkish Journal of Pediatrics},
  title        = {A Turkish BCS1L mutation causes GRACILE-like disorder},
  url          = {http://dx.doi.org/10.24953/turkjped.2016.06.013},
  volume       = {58},
  year         = {2017},
}