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Mitochondrial DNA depletion syndrome 11(MTDPS11)

MedGen UID:
488683
Concept ID:
CN165700
Disease or Syndrome
Synonyms: MTDPS11
 
Gene: MGME1
Cytogenetic location: 20p11.23
OMIM®: 615084

Definition

Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by Kornblum et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Etiology

Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E, Ali A, Alasmari A, Lone K, Nahari A, Eyaid W, Al Balwi M, Craig K, Butterworth A, He L, Taylor RW
J Pediatr 2014 Mar;164(3):553-9.e1-2. Epub 2013 Dec 8 doi: 10.1016/j.jpeds.2013.10.082. [Epub ahead of print] PMID: 24321534
Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ
Mol Genet Metab 2013 Sep-Oct;110(1-2):153-61. Epub 2013 Jul 17 doi: 10.1016/j.ymgme.2013.07.009. [Epub ahead of print] PMID: 23932787
Douglas GV, Wiszniewska J, Lipson MH, Witt DR, McDowell T, Sifry-Platt M, Hirano M, Craigen WJ, Wong LJ
J Hum Genet 2011 Dec;56(12):834-9. Epub 2011 Oct 20 doi: 10.1038/jhg.2011.112. [Epub ahead of print] PMID: 22011815
Morén C, Noguera-Julian A, Rovira N, Corrales E, Garrabou G, Hernández S, Nicolás M, Tobías E, Cardellach F, Miró O, Fortuny C
Pediatr Infect Dis J 2011 Nov;30(11):992-5. doi: 10.1097/INF.0b013e3182253c54. PMID: 21697766
Nolan D, Hammond E, Martin A, Taylor L, Herrmann S, McKinnon E, Metcalf C, Latham B, Mallal S
AIDS 2003 Jun 13;17(9):1329-38. doi: 10.1097/01.aids.0000060385.18106.35. PMID: 12799554

Diagnosis

Lax NZ, Whittaker RG, Hepplewhite PD, Reeve AK, Blakely EL, Jaros E, Ince PG, Taylor RW, Fawcett PR, Turnbull DM
Brain 2012 Jan;135(Pt 1):62-71. Epub 2011 Dec 20 doi: 10.1093/brain/awr326. [Epub ahead of print] PMID: 22189570Free PMC Article
Douglas GV, Wiszniewska J, Lipson MH, Witt DR, McDowell T, Sifry-Platt M, Hirano M, Craigen WJ, Wong LJ
J Hum Genet 2011 Dec;56(12):834-9. Epub 2011 Oct 20 doi: 10.1038/jhg.2011.112. [Epub ahead of print] PMID: 22011815
Sciacco M, Gasparo-Rippa P, Vu TH, Tanji K, Shanske S, Mendell JR, Schon EA, DiMauro S, Bonilla E
Muscle Nerve 1998 Nov;21(11):1374-81. PMID: 9771659
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. PMID: 8215979

Therapy

Morén C, Noguera-Julian A, Rovira N, Corrales E, Garrabou G, Hernández S, Nicolás M, Tobías E, Cardellach F, Miró O, Fortuny C
Pediatr Infect Dis J 2011 Nov;30(11):992-5. doi: 10.1097/INF.0b013e3182253c54. PMID: 21697766
McComsey GA, Libutti DE, O'Riordan M, Shelton JM, Storer N, Ganz J, Jasper J, Harrill D, Gerschenson M
Antivir Ther 2008;13(5):715-22. PMID: 18771055Free PMC Article
van der Valk M, Casula M, Weverlingz GJ, van Kuijk K, van Eck-Smit B, Hulsebosch HJ, Nieuwkerk P, van Eeden A, Brinkman K, Lange J, de Ronde A, Reiss P
Antivir Ther 2004 Jun;9(3):385-93. PMID: 15259901
Nolan D, Hammond E, Martin A, Taylor L, Herrmann S, McKinnon E, Metcalf C, Latham B, Mallal S
AIDS 2003 Jun 13;17(9):1329-38. doi: 10.1097/01.aids.0000060385.18106.35. PMID: 12799554
Dalakas MC, Semino-Mora C, Leon-Monzon M
Lab Invest 2001 Nov;81(11):1537-44. PMID: 11706061

Prognosis

Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E, Ali A, Alasmari A, Lone K, Nahari A, Eyaid W, Al Balwi M, Craig K, Butterworth A, He L, Taylor RW
J Pediatr 2014 Mar;164(3):553-9.e1-2. Epub 2013 Dec 8 doi: 10.1016/j.jpeds.2013.10.082. [Epub ahead of print] PMID: 24321534
Douglas GV, Wiszniewska J, Lipson MH, Witt DR, McDowell T, Sifry-Platt M, Hirano M, Craigen WJ, Wong LJ
J Hum Genet 2011 Dec;56(12):834-9. Epub 2011 Oct 20 doi: 10.1038/jhg.2011.112. [Epub ahead of print] PMID: 22011815
Schaller A, Hahn D, Jackson CB, Kern I, Chardot C, Belli DC, Gallati S, Nuoffer JM
BMC Neurol 2011 Jan 14;11:4. doi: 10.1186/1471-2377-11-4. [Epub ahead of print] PMID: 21235791Free PMC Article
Compton AG, Troedson C, Wilson M, Procopis PG, Li FY, Brundage EK, Yamazaki T, Thorburn DR, Wong LJ
Mitochondrion 2011 Jan;11(1):104-7. Epub 2010 Aug 12 doi: 10.1016/j.mito.2010.07.012. [Epub ahead of print] PMID: 20708716
van der Valk M, Casula M, Weverlingz GJ, van Kuijk K, van Eck-Smit B, Hulsebosch HJ, Nieuwkerk P, van Eeden A, Brinkman K, Lange J, de Ronde A, Reiss P
Antivir Ther 2004 Jun;9(3):385-93. PMID: 15259901

Clinical prediction guides

Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ
Mol Genet Metab 2013 Sep-Oct;110(1-2):153-61. Epub 2013 Jul 17 doi: 10.1016/j.ymgme.2013.07.009. [Epub ahead of print] PMID: 23932787
Lax NZ, Whittaker RG, Hepplewhite PD, Reeve AK, Blakely EL, Jaros E, Ince PG, Taylor RW, Fawcett PR, Turnbull DM
Brain 2012 Jan;135(Pt 1):62-71. Epub 2011 Dec 20 doi: 10.1093/brain/awr326. [Epub ahead of print] PMID: 22189570Free PMC Article
Schaller A, Hahn D, Jackson CB, Kern I, Chardot C, Belli DC, Gallati S, Nuoffer JM
BMC Neurol 2011 Jan 14;11:4. doi: 10.1186/1471-2377-11-4. [Epub ahead of print] PMID: 21235791Free PMC Article
van der Valk M, Casula M, Weverlingz GJ, van Kuijk K, van Eck-Smit B, Hulsebosch HJ, Nieuwkerk P, van Eeden A, Brinkman K, Lange J, de Ronde A, Reiss P
Antivir Ther 2004 Jun;9(3):385-93. PMID: 15259901
Sciacco M, Gasparo-Rippa P, Vu TH, Tanji K, Shanske S, Mendell JR, Schon EA, DiMauro S, Bonilla E
Muscle Nerve 1998 Nov;21(11):1374-81. PMID: 9771659

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