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Intellectual developmental disorder, autosomal recessive 81(MRT81)

MedGen UID:
1054586
•Concept ID:
CN376308
•
Disease or Syndrome
Synonym: MRT81
 
Gene (location): ASCC3 (6q16.3)
 
Monarch Initiative: MONDO:0958204
OMIM®: 620700

Definition

Autosomal recessive intellectual developmental disorder-81 (MRT81) is characterized by a variable neurobehavioral and neuromuscular phenotype (summary by Nair et al., 2021). [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
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free PMC Article

Recent clinical studies

Etiology

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.
Fridman H, Yntema HG, Mägi R, Andreson R, Metspalu A, Mezzavila M, Tyler-Smith C, Xue Y, Carmi S, Levy-Lahad E, Gilissen C, Brunner HG
Am J Hum Genet 2021 Apr 1;108(4):608-619. Epub 2021 Mar 18 doi: 10.1016/j.ajhg.2021.03.004. PMID: 33740458Free PMC Article
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free 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
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.
Tamhankar PM, Iyer SV, Ravindran S, Gupta N, Kabra M, Nayak C, Kura M, Sanghavi S, Joshi R, Chennuri VS, Khopkar U
Indian J Dermatol Venereol Leprol 2015 Jan-Feb;81(1):16-22. doi: 10.4103/0378-6323.148559. PMID: 25566891
Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients.
Bobabilla-Morales L, Corona-Rivera A, Corona-Rivera JR, Buenrostro C, García-Cobián TA, Corona-Rivera E, Cantú-Garza JM, García-Cruz D
Am J Med Genet A 2003 Dec 1;123A(2):148-52. doi: 10.1002/ajmg.a.20341. PMID: 14598338

Diagnosis

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270Free PMC Article
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.
Hsu RH, Lee CH, Chien YH, Lin SP, Hung MZ, Chen NC, Lin YL, Hwu WL, Lee NC
Mol Genet Genomic Med 2023 Jun;11(6):e2160. Epub 2023 Feb 27 doi: 10.1002/mgg3.2160. PMID: 36849876Free PMC Article
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Alghamdi M, Bashiri FA, Abdelhakim M, Adly N, Jamjoom DZ, Sumaily KM, Alghanem B, Arold ST
Clin Genet 2021 Jan;99(1):99-110. Epub 2020 Sep 16 doi: 10.1111/cge.13843. PMID: 32888189Free PMC Article
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free PMC Article
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease.
Srinath A, Shneider BL
J Pediatr Gastroenterol Nutr 2012 May;54(5):580-7. doi: 10.1097/MPG.0b013e31824711b7. PMID: 22197937Free PMC Article

Therapy

Court orders on procreation.
Matevosyan NR
Arch Gynecol Obstet 2016 Jan;293(1):87-99. Epub 2015 Jun 11 doi: 10.1007/s00404-015-3770-6. PMID: 26063342

Prognosis

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free 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
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW
Am J Hum Genet 2007 Oct;81(4):792-8. Epub 2007 Aug 31 doi: 10.1086/521275. PMID: 17847003Free PMC Article

Clinical prediction guides

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270Free PMC Article
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Alghamdi M, Bashiri FA, Abdelhakim M, Adly N, Jamjoom DZ, Sumaily KM, Alghanem B, Arold ST
Clin Genet 2021 Jan;99(1):99-110. Epub 2020 Sep 16 doi: 10.1111/cge.13843. PMID: 32888189Free PMC Article
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
Mir A, Sritharan K, Mittal K, Vasli N, Araujo C, Jamil T, Rafiq MA, Anwar Z, Mikhailov A, Rauf S, Mahmood H, Shakoor A, Ali S, So J, Naeem F, Ayub M, Vincent JB
Hum Genet 2014 Aug;133(8):975-84. Epub 2014 Mar 13 doi: 10.1007/s00439-014-1438-0. PMID: 24623383
Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA
Am J Hum Genet 2007 Jul;81(1):77-86. Epub 2007 May 17 doi: 10.1086/518696. PMID: 17564965Free PMC Article
Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients.
Bobabilla-Morales L, Corona-Rivera A, Corona-Rivera JR, Buenrostro C, García-Cobián TA, Corona-Rivera E, Cantú-Garza JM, García-Cruz D
Am J Med Genet A 2003 Dec 1;123A(2):148-52. doi: 10.1002/ajmg.a.20341. PMID: 14598338

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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