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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

Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.
Ahmed AN, Rawlins LE, Khan N, Jan Z, Ubeyratna N, Voutsina N, Azeem A, Khan S, Baple EL, Crosby AH, Saleha S
BMC Neurol 2024 Oct 16;24(1):394. doi: 10.1186/s12883-024-03882-y. PMID: 39415096Free PMC Article
Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency.
Zhang JM, Hao LL, Qiu WJ, Zhang HW, Chen T, Ji WJ, Zhang Y, Liu F, Gu XF, Yang SH, Han LS
Brain Dev 2024 Oct;46(9):286-293. Epub 2024 Jul 27 doi: 10.1016/j.braindev.2024.07.001. PMID: 39069445
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

Diagnosis

Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.
Ahmed AN, Rawlins LE, Khan N, Jan Z, Ubeyratna N, Voutsina N, Azeem A, Khan S, Baple EL, Crosby AH, Saleha S
BMC Neurol 2024 Oct 16;24(1):394. doi: 10.1186/s12883-024-03882-y. PMID: 39415096Free PMC Article
Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency.
Zhang JM, Hao LL, Qiu WJ, Zhang HW, Chen T, Ji WJ, Zhang Y, Liu F, Gu XF, Yang SH, Han LS
Brain Dev 2024 Oct;46(9):286-293. Epub 2024 Jul 27 doi: 10.1016/j.braindev.2024.07.001. PMID: 39069445
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
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.
Dentici ML, Brancati F, Mingarelli R, Dallapiccola B
Eur J Med Genet 2009 Nov-Dec;52(6):421-5. Epub 2009 Oct 1 doi: 10.1016/j.ejmg.2009.09.008. PMID: 19800039

Prognosis

Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency.
Zhang JM, Hao LL, Qiu WJ, Zhang HW, Chen T, Ji WJ, Zhang Y, Liu F, Gu XF, Yang SH, Han LS
Brain Dev 2024 Oct;46(9):286-293. Epub 2024 Jul 27 doi: 10.1016/j.braindev.2024.07.001. PMID: 39069445
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
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

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
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
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.
Dentici ML, Brancati F, Mingarelli R, Dallapiccola B
Eur J Med Genet 2009 Nov-Dec;52(6):421-5. Epub 2009 Oct 1 doi: 10.1016/j.ejmg.2009.09.008. PMID: 19800039
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

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