Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

American Journal of Human Genetics
Vanessa A van RahdenKerstin Kutsche

Abstract

Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder also known as MIDAS (microphthalmia, dermal aplasia, and sclerocornea). Additional clinical features include neurological and cardiac abnormalities. MLS syndrome is genetically heterogeneous given that heterozygous mutations in HCCS or COX7B have been identified in MLS-affected females. Both genes encode proteins involved in the structure and function of complexes III and IV, which form the terminal segment of the mitochondrial respiratory chain (MRC). However, not all individuals with MLS syndrome carry a mutation in either HCCS or COX7B. The majority of MLS-affected females have severe skewing of X chromosome inactivation, suggesting that mutations in HCCS, COX7B, and other as-yet-unidentified X-linked gene(s) cause selective loss of cells in which the mutated X chromosome is active. By applying whole-exome sequencing and filtering for X-chromosomal variants, we identified a de novo nonsense mutation in NDUFB11 (Xp11.23) in one female individual and a heterozygous 1-bp deletion in a second individual, her asymptomatic mother, and an affected aborted fetus of the subject's mother. NDUFB11 encodes one of 30 poorly characterized supernumer...Continue Reading

References

Feb 1, 1991·Journal of Medical Genetics·J Allanson, S Richter
Jan 15, 1994·American Journal of Medical Genetics·E A LindsayH Y Zoghbi
Aug 2, 2001·Seminars in Reproductive Medicine·I B Van den Veyver
Jun 11, 2002·Methods : a Companion to Methods in Enzymology·Leo G J NijtmansIan J Holt
Mar 20, 2003·Molecular & Cellular Proteomics : MCP·Joe CarrollJohn E Walker
Sep 30, 2003·The Journal of Biological Chemistry·Delphine G BernardPatrice P Hamel
Sep 11, 2004·Brain : a Journal of Neurology·Massimo Zeviani, Stefano Di Donato
Aug 2, 2005·American Journal of Medical Genetics. Part a·Manuela MorleoBrunella Franco
Sep 12, 2006·Gene Expression Patterns : GEP·Ulf GurokRüdiger Horstkorte
Feb 13, 2007·Biochemical and Biophysical Research Communications·Vittoria PetruzzellaFilippo M Santorelli
May 14, 2008·Clinical Cardiology·Josef Finsterer
Oct 28, 2008·Pediatric Dermatology·Vishakha M SharmaSarah L Stein
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Jun 23, 2010·Human Molecular Genetics·Aurora Gómez-DuránEduardo Ruiz-Pesini
Jan 5, 2011·Clinical Dysmorphology·Medhat S AlberryRuth Newbury-Ecob
Sep 20, 2011·Biochimica Et Biophysica Acta·Masakazu MimakiMichael T Ryan
Feb 9, 2012·Mitochondrion·F InvernizziV Tiranti
Mar 14, 2012·Pediatric Dermatology·Jonathan ZumwaltLinda Golkar
May 26, 2012·Nursing·Gail Reiner, Jan Panyard-Davis
Sep 14, 2012·Journal of Medical Genetics·Elisa Fassone, Shamima Rahman
Nov 6, 2012·American Journal of Human Genetics·Alessia IndrieriBrunella Franco
Mar 16, 2013·American Journal of Medical Genetics. Part a·Mindy Preston DabellLisa G Shaffer
Mar 27, 2013·Annual Review of Biochemistry·Judy Hirst

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Citations

Sep 16, 2015·Proceedings of the National Academy of Sciences of the United States of America·Jiapeng ZhuJudy Hirst
May 5, 2016·American Journal of Medical Genetics. Part a·Markus VogelFanny Kortüm
Jul 5, 2016·American Journal of Human Genetics·Charlotte L AlstonRobert W Taylor
Feb 21, 2018·Ophthalmic Genetics·Nair Gopinathan VidyaAbhay R Vasavada
Nov 16, 2017·International Journal of Hematology·Kazumichi Furuyama, Kiriko Kaneko
Aug 3, 2019·Pediatric Dermatology·Kerrie G SatcherJennifer J Schoch
Mar 10, 2016·EMBO Molecular Medicine·Werner Jh KoopmanJan Am Smeitink
May 29, 2020·Journal of Internal Medicine·C La MorgiaV Carelli
Dec 24, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Ute Moog, William B Dobyns
Dec 6, 2019·Frontiers in Molecular Biosciences·Dayan SunJiucun Wang
Nov 3, 2016·The Journal of Pathology·Charlotte L AlstonRobert W Taylor
Aug 3, 2018·BMC Pediatrics·Nina PrepeluhNadja Kokalj Vokač
Jun 14, 2018·Clinical and Experimental Dermatology·A DurackN P Burrows
Nov 8, 2020·FEBS Letters·Erika Fernandez-Vizarra, Massimo Zeviani
Nov 2, 2019·Mitochondrion·Mario H Barros, Gavin P McStay
Jan 6, 2021·Genes·Tung-Lin LeeChen-Chi Wu
Nov 26, 2020·Life·Quynh-Chi L DangSteven B Vik
Jan 14, 2021·International Journal of Molecular Sciences·Margherita Protasoni, Massimo Zeviani
Aug 8, 2021·International Journal of Molecular Sciences·Paola ZanfardinoVittoria Petruzzella

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