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Intellectual developmental disorder, autosomal recessive 82

MedGen UID:
1054721
•Concept ID:
CN377626
•
Disease or Syndrome
Synonym: intellectual developmental disorder, autosomal recessive 82
 
Gene (location): NSUN6 (10p12.31)
 
Monarch Initiative: MONDO:0968944
OMIM®: 620779

Definition

Autosomal recessive intellectual developmental disorder-82 (MRT82) is characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities (Mattioli et al., 2023). [from OMIM]

Professional guidelines

PubMed

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Vetri L, Calì F, Saccone S, Vinci M, Chiavetta NV, Carotenuto M, Roccella M, Costanza C, Elia M
Int J Mol Sci 2024 Jan 17;25(2) doi: 10.3390/ijms25021146. PMID: 38256219Free PMC Article

Recent clinical studies

Etiology

Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.
Sampagar A, Gosavi M, Kedar P, Patel T, Dongerdiye R, Mahantashetti N
Int J Hematol 2022 Feb;115(2):255-262. Epub 2021 Oct 27 doi: 10.1007/s12185-021-03240-5. PMID: 34704234
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.
Mutlu-Albayrak H, Kırat E, Gürbüz G
Neurogenetics 2020 Jan;21(1):59-66. Epub 2019 Nov 19 doi: 10.1007/s10048-019-00597-y. PMID: 31741144
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
Aharoni S, Barwick KE, Straussberg R, Harlalka GV, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH
BMC Med Genet 2016 Nov 16;17(1):82. doi: 10.1186/s12881-016-0343-x. PMID: 27852232Free PMC Article
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE
Nat Genet 1999 Oct;23(2):233-6. doi: 10.1038/13868. PMID: 10508524

Diagnosis

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Vetri L, Calì F, Saccone S, Vinci M, Chiavetta NV, Carotenuto M, Roccella M, Costanza C, Elia M
Int J Mol Sci 2024 Jan 17;25(2) doi: 10.3390/ijms25021146. PMID: 38256219Free PMC Article
Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.
Sampagar A, Gosavi M, Kedar P, Patel T, Dongerdiye R, Mahantashetti N
Int J Hematol 2022 Feb;115(2):255-262. Epub 2021 Oct 27 doi: 10.1007/s12185-021-03240-5. PMID: 34704234
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.
Mutlu-Albayrak H, Kırat E, Gürbüz G
Neurogenetics 2020 Jan;21(1):59-66. Epub 2019 Nov 19 doi: 10.1007/s10048-019-00597-y. PMID: 31741144
Late-onset Boucher-Neuhäuser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature.
Kate MP, Kesavadas C, Nair M, Krishnan S, Soman M, Singh A
J Neurol Neurosurg Psychiatry 2011 Aug;82(8):888-91. Epub 2010 Jun 28 doi: 10.1136/jnnp.2009.196790. PMID: 20587490
The ophthalmic findings in Cohen syndrome.
Chandler KE, Biswas S, Lloyd IC, Parry N, Clayton-Smith J, Black GC
Br J Ophthalmol 2002 Dec;86(12):1395-8. doi: 10.1136/bjo.86.12.1395. PMID: 12446373Free PMC Article

Prognosis

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
Aharoni S, Barwick KE, Straussberg R, Harlalka GV, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH
BMC Med Genet 2016 Nov 16;17(1):82. doi: 10.1186/s12881-016-0343-x. PMID: 27852232Free PMC Article
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE
Nat Genet 1999 Oct;23(2):233-6. doi: 10.1038/13868. PMID: 10508524

Clinical prediction guides

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS
Ann Neurol 2017 Oct;82(4):562-577. Epub 2017 Oct 14 doi: 10.1002/ana.25044. PMID: 28892560
A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.
Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S
Mol Psychiatry 2016 Aug;21(8):1125-9. Epub 2015 Sep 29 doi: 10.1038/mp.2015.150. PMID: 26416544
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, Edkins S, Futreal PA, Stratton MR, Turner G, Matthijs G, Gecz J, Munnich A, Colleaux L
Am J Hum Genet 2008 May;82(5):1150-7. Epub 2008 May 1 doi: 10.1016/j.ajhg.2008.03.021. PMID: 18455129Free PMC Article
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.
Barel O, Shorer Z, Flusser H, Ofir R, Narkis G, Finer G, Shalev H, Nasasra A, Saada A, Birk OS
Am J Hum Genet 2008 May;82(5):1211-6. Epub 2008 Apr 24 doi: 10.1016/j.ajhg.2008.03.020. PMID: 18439546Free PMC Article
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M
Am J Hum Genet 2008 Apr;82(4):1011-8. doi: 10.1016/j.ajhg.2008.01.021. PMID: 18387594Free PMC Article

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