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Intellectual disability, autosomal recessive 52(MRT52)

MedGen UID:
903181
•Concept ID:
C4225168
•
Disease or Syndrome
Synonym: MRT52
 
Gene (location): LMAN2L (2q11.2)
 
Monarch Initiative: MONDO:0014815
OMIM®: 616887

Definition

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene. [from MONDO]

Clinical features

From HPO
Aggressive behavior
MedGen UID:
1375
•Concept ID:
C0001807
•
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
See: Search on this feature
Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
See: Feature record | Search on this feature
Intellectual disability, severe
MedGen UID:
48638
•Concept ID:
C0036857
•
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
See: Feature record | Search on this feature
Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
See: Feature record | Search on this feature

Professional guidelines

PubMed

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C
J Med Genet 2015 Jan;52(1):61-70. Epub 2014 Nov 19 doi: 10.1136/jmedgenet-2014-102748. PMID: 25411445
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA
Hum Mutat 2013 May;34(5):686-96. doi: 10.1002/humu.22296. PMID: 23420520

Recent clinical studies

Etiology

Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients.
Kong W, Meng Y, Zou L, Yang G, Wang J, Shi X
J Pediatr Endocrinol Metab 2020 May 24;33(6):793-802. doi: 10.1515/jpem-2019-0505. PMID: 32447333
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F
Parkinsonism Relat Disord 2019 Dec;69:99-103. Epub 2019 Oct 13 doi: 10.1016/j.parkreldis.2019.10.007. PMID: 31726291
Enlarged vestibular aqueducts and other inner-ear abnormalities in patients with Down syndrome.
Clark CM, Patel HH, Kanekar SG, Isildak H
J Laryngol Otol 2017 Apr;131(4):298-302. Epub 2016 Dec 28 doi: 10.1017/S0022215116009786. PMID: 28027715
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M
J Med Genet 2015 Apr;52(4):269-74. Epub 2015 Jan 22 doi: 10.1136/jmedgenet-2014-102418. PMID: 25612912
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
Yanagisawa A, Bouchet C, Quijano-Roy S, Vuillaumier-Barrot S, Clarke N, Odent S, Rodriguez D, Romero NB, Osawa M, Endo T, Taratuto AL, Seta N, Guicheney P
Eur J Med Genet 2009 Jul-Aug;52(4):201-6. Epub 2008 Dec 27 doi: 10.1016/j.ejmg.2008.12.004. PMID: 19138766

Diagnosis

Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients.
Kong W, Meng Y, Zou L, Yang G, Wang J, Shi X
J Pediatr Endocrinol Metab 2020 May 24;33(6):793-802. doi: 10.1515/jpem-2019-0505. PMID: 32447333
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F
Parkinsonism Relat Disord 2019 Dec;69:99-103. Epub 2019 Oct 13 doi: 10.1016/j.parkreldis.2019.10.007. PMID: 31726291
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R
JAMA Psychiatry 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. PMID: 28097321
Clinical and genetic analysis of two Chinese infants with Mabry syndrome.
Xue J, Li H, Zhang Y, Yang Z
Brain Dev 2016 Oct;38(9):807-18. Epub 2016 May 10 doi: 10.1016/j.braindev.2016.04.008. PMID: 27177984
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N
Intern Med 2013;52(14):1629-33. Epub 2013 Jul 15 doi: 10.2169/internalmedicine.52.0252. PMID: 23857099

Prognosis

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
Waseem SS, Moawia A, Budde B, Tariq M, Khan A, Ali Z, Khan S, Iqbal M, Malik NA, Haque SU, Altmüller J, Thiele H, Hussain MS, Cirak S, Baig SM, Nürnberg P
Genes (Basel) 2021 Sep 24;12(10) doi: 10.3390/genes12101494. PMID: 34680889Free PMC Article
Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients.
Kong W, Meng Y, Zou L, Yang G, Wang J, Shi X
J Pediatr Endocrinol Metab 2020 May 24;33(6):793-802. doi: 10.1515/jpem-2019-0505. PMID: 32447333
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F
Parkinsonism Relat Disord 2019 Dec;69:99-103. Epub 2019 Oct 13 doi: 10.1016/j.parkreldis.2019.10.007. PMID: 31726291
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C
J Med Genet 2015 Jan;52(1):61-70. Epub 2014 Nov 19 doi: 10.1136/jmedgenet-2014-102748. PMID: 25411445
Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins.
van der Knaap MS, Barth PG
Am J Med Genet 1994 Aug 15;52(2):218-22. doi: 10.1002/ajmg.1320520218. PMID: 7802012

Clinical prediction guides

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
Waseem SS, Moawia A, Budde B, Tariq M, Khan A, Ali Z, Khan S, Iqbal M, Malik NA, Haque SU, Altmüller J, Thiele H, Hussain MS, Cirak S, Baig SM, Nürnberg P
Genes (Basel) 2021 Sep 24;12(10) doi: 10.3390/genes12101494. PMID: 34680889Free PMC Article
Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients.
Kong W, Meng Y, Zou L, Yang G, Wang J, Shi X
J Pediatr Endocrinol Metab 2020 May 24;33(6):793-802. doi: 10.1515/jpem-2019-0505. PMID: 32447333
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM
Hum Genet 2018 Sep;137(9):735-752. Epub 2018 Aug 22 doi: 10.1007/s00439-018-1928-6. PMID: 30167849Free PMC Article
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C
J Med Genet 2015 Jan;52(1):61-70. Epub 2014 Nov 19 doi: 10.1136/jmedgenet-2014-102748. PMID: 25411445
A nationwide survey on Marinesco-Sjögren syndrome in Japan.
Goto M, Okada M, Komaki H, Sugai K, Sasaki M, Noguchi S, Nonaka I, Nishino I, Hayashi YK
Orphanet J Rare Dis 2014 Apr 23;9:58. doi: 10.1186/1750-1172-9-58. PMID: 24755310Free PMC Article

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      OMIM records containing genes associated with phenotypes registered in MedGen
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