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Autosomal dominant non-syndromic intellectual disability

MedGen UID:
1826082
•Concept ID:
C5680502
•
Disease or Syndrome
Synonyms: autosomal dominant non-syndromic intellectual disability; autosomal dominant non-syndromic mental retardation; non-syndromic intellectual disability, autosomal dominant
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015802
Orphanet: ORPHA178469

Definition

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

Recent clinical studies

Etiology

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.
Li C, Wang Y, Zeng C, Huang B, Chen Y, Xue C, Liu L, Rong S, Lin Y
Sci Rep 2024 Nov 11;14(1):27590. doi: 10.1038/s41598-024-79431-x. PMID: 39528574Free PMC Article
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.
Guadagnolo D, Mastromoro G, Torres B, Marchionni E, di Palma F, Goldoni M, Cocciadiferro D, Novelli A, Bernardini L, Pizzuti A
Genes (Basel) 2023 Nov 29;14(12) doi: 10.3390/genes14122157. PMID: 38136979Free PMC Article
Multifactorial inheritance of non-syndromic macrocephaly.
Arbour L, Watters GV, Hall JG, Fraser FC
Clin Genet 1996 Aug;50(2):57-62. doi: 10.1111/j.1399-0004.1996.tb02349.x. PMID: 8937762

Diagnosis

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.
Li C, Wang Y, Zeng C, Huang B, Chen Y, Xue C, Liu L, Rong S, Lin Y
Sci Rep 2024 Nov 11;14(1):27590. doi: 10.1038/s41598-024-79431-x. PMID: 39528574Free PMC Article
A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review.
Yang F, Ding Y, Wang Y, Zhang Q, Li H, Yu T, Chang G, Wang X
Medicine (Baltimore) 2024 Jan 12;103(2):e35908. doi: 10.1097/MD.0000000000035908. PMID: 38215144Free PMC Article
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Li N, Kang H, Zou Y, Liu Z, Deng Y, Wang M, Li L, Qin H, Qiu X, Wang Y, Zhu J, Agostino M, Heng JI, Yu P
Neurogenetics 2023 Oct;24(4):251-262. Epub 2023 Jul 31 doi: 10.1007/s10048-023-00727-7. PMID: 37525067
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Järvelä I, Määttä T, Acharya A, Leppälä J, Jhangiani SN, Arvio M, Siren A, Kankuri-Tammilehto M, Kokkonen H, Palomäki M, Varilo T, Fang M, Hadley TD, Jolly A, Linnankivi T, Paetau R, Saarela A, Kälviäinen R, Olme J, Nouel-Saied LM, Cornejo-Sanchez DM, Llaci L, Lupski JR, Posey JE, Leal SM, Schrauwen I
Hum Genet 2021 Jul;140(7):1011-1029. Epub 2021 Mar 12 doi: 10.1007/s00439-021-02268-1. PMID: 33710394Free PMC Article
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ
Am J Med Genet A 2016 Dec;170(12):3313-3318. Epub 2016 Aug 29 doi: 10.1002/ajmg.a.37945. PMID: 27570168

Therapy

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM
Eur J Hum Genet 2019 Jun;27(6):869-878. Epub 2019 Mar 14 doi: 10.1038/s41431-019-0372-y. PMID: 30872814Free PMC Article

Prognosis

A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Li N, Kang H, Zou Y, Liu Z, Deng Y, Wang M, Li L, Qin H, Qiu X, Wang Y, Zhu J, Agostino M, Heng JI, Yu P
Neurogenetics 2023 Oct;24(4):251-262. Epub 2023 Jul 31 doi: 10.1007/s10048-023-00727-7. PMID: 37525067
Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R
PLoS One 2014;9(11):e112687. Epub 2014 Nov 18 doi: 10.1371/journal.pone.0112687. PMID: 25405613Free PMC Article

Clinical prediction guides

A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Li N, Kang H, Zou Y, Liu Z, Deng Y, Wang M, Li L, Qin H, Qiu X, Wang Y, Zhu J, Agostino M, Heng JI, Yu P
Neurogenetics 2023 Oct;24(4):251-262. Epub 2023 Jul 31 doi: 10.1007/s10048-023-00727-7. PMID: 37525067
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM
Eur J Hum Genet 2019 Jun;27(6):869-878. Epub 2019 Mar 14 doi: 10.1038/s41431-019-0372-y. PMID: 30872814Free PMC Article
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.
Moore SW
Pediatr Surg Int 2012 Nov;28(11):1045-58. Epub 2012 Sep 23 doi: 10.1007/s00383-012-3175-6. PMID: 23001136
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nürnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A
Hum Mol Genet 2011 Jul 1;20(13):2585-90. Epub 2011 Apr 15 doi: 10.1093/hmg/ddr158. PMID: 21498477
Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24.
Verot L, Alloisio N, Morlé L, Bozon M, Touraine R, Plauchu H, Edery P
Am J Med Genet A 2003 Sep 15;122A(1):37-41. doi: 10.1002/ajmg.a.20221. PMID: 12949969

Supplemental Content

Table of contents

    Clinical resources

    Reviews

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    • ClinVar
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    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
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