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Autosomal recessive non-syndromic intellectual disability

MedGen UID:
1826073
•Concept ID:
C5680181
•
Disease or Syndrome
Synonym: Mental retardation, autosomal recessive
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019502
OMIM® Phenotypic series: PS249500
Orphanet: ORPHA88616

Definition

Autosomal recessive form of non-syndromic intellectual disability. [from MONDO]

Professional guidelines

PubMed

Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition.
Thomas LA, Lewis S, Massie J, Kirk EP, Archibald AD, Barlow-Stewart K, Boardman FK, Halliday J, McClaren B, Delatycki MB
Eur J Med Genet 2020 Dec;63(12):104075. Epub 2020 Sep 30 doi: 10.1016/j.ejmg.2020.104075. PMID: 33007447

Recent clinical studies

Prognosis

Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant.
Yassin SH, Kalaw FGP, Li A, Fletcher E, Borooah S
Ophthalmic Genet 2024 Feb;45(1):63-71. Epub 2023 May 9 doi: 10.1080/13816810.2023.2204359. PMID: 37160720
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
Amin M, Vignal C, Eltaraifee E, Mohammed IN, Hamed AAA, Elseed MA, Babai A, Elbadi I, Mustafa D, Abubaker R, Mustafa M, Drunat S, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I
BMC Med Genomics 2022 Nov 8;15(1):236. doi: 10.1186/s12920-022-01354-1. PMID: 36348459Free PMC Article
Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
Moudi M, Vahidi Mehrjardi MY, Hozhabri H, Metanat Z, Kalantar SM, Taheri M, Ghasemi N, Dehghani M
J Clin Lab Anal 2022 Feb;36(2):e24241. Epub 2022 Jan 12 doi: 10.1002/jcla.24241. PMID: 35019165Free PMC Article

Clinical prediction guides

Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant.
Yassin SH, Kalaw FGP, Li A, Fletcher E, Borooah S
Ophthalmic Genet 2024 Feb;45(1):63-71. Epub 2023 May 9 doi: 10.1080/13816810.2023.2204359. PMID: 37160720
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
Amin M, Vignal C, Eltaraifee E, Mohammed IN, Hamed AAA, Elseed MA, Babai A, Elbadi I, Mustafa D, Abubaker R, Mustafa M, Drunat S, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I
BMC Med Genomics 2022 Nov 8;15(1):236. doi: 10.1186/s12920-022-01354-1. PMID: 36348459Free PMC Article
Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
Moudi M, Vahidi Mehrjardi MY, Hozhabri H, Metanat Z, Kalantar SM, Taheri M, Ghasemi N, Dehghani M
J Clin Lab Anal 2022 Feb;36(2):e24241. Epub 2022 Jan 12 doi: 10.1002/jcla.24241. PMID: 35019165Free PMC Article
A null mutation in TNIK defines a novel locus for intellectual disability.
Anazi S, Shamseldin HE, AlNaqeb D, Abouelhoda M, Monies D, Salih MA, Al-Rubeaan K, Alkuraya FS
Hum Genet 2016 Jul;135(7):773-8. Epub 2016 Apr 22 doi: 10.1007/s00439-016-1671-9. PMID: 27106596
Frequencies of Six (Five Novel) STR Markers Linked to TUSC3 (MRT7) or NSUN2 (MRT5) Genes Used for Homozygosity Mapping of Recessive Intellectual Disability.
Ghadami S, Mohammadi HM, Malbin J, Masoodifard M, Sarhaddi AB, Tavakkoly-Bazzaz J, Zeinali S
Clin Lab 2015;61(8):925-32. doi: 10.7754/clin.lab.2015.150101. PMID: 26427135

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