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Autosomal dominant primary microcephaly

MedGen UID:
66319
•Concept ID:
C0220693
•
Disease or Syndrome
Synonyms: Microcephaly autosomal dominant; Microcephaly with autosomal dominant inheritance
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:0007988
OMIM®: 156580
Orphanet: ORPHA2514

Definition

Microcephaly strictly means abnormally small head size, but usually refers to an occipitofrontal head circumference below -2 SD from the mean for the infant's gestational age, sex, and ethnic origin. Microcephaly may appear as an isolated trait or in association with other malformations. It may also be sporadic or familial. Some familial cases are autosomal dominant, but most appear to be recessive (see 251200) (summary by Merlob et al., 1988). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant primary microcephaly
Follow this link to review classifications for Autosomal dominant primary microcephaly in Orphanet.

Recent clinical studies

Etiology

Genetic susceptibility of vitamin D receptor gene polymorphisms on autosomal recessive primary microcephaly patients in Pakistani population: a case-control and in-silico study.
Aslam K, Anjum I, Aslam K, Haq R, Bashir R
Mol Biol Rep 2023 Oct;50(10):8049-8059. Epub 2023 Aug 4 doi: 10.1007/s11033-023-08681-1. PMID: 37541996
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny A, Curry CJ, Graham JM Jr, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro RV
Clin Genet 2021 Apr;99(4):547-557. Epub 2021 Jan 13 doi: 10.1111/cge.13912. PMID: 33381861
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R, Van Esch H
Am J Hum Genet 2020 Oct 1;107(4):753-762. Epub 2020 Sep 9 doi: 10.1016/j.ajhg.2020.08.015. PMID: 32910914Free PMC Article
Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature.
Olbrich P, Lorenz M, Cura Daball P, Lucena JM, Rensing-Ehl A, Sanchez B, Führer M, Camacho-Lovillo M, Melon M, Schwarz K, Neth O, Speckmann C
Pediatr Allergy Immunol 2016 Sep;27(6):640-4. Epub 2016 May 27 doi: 10.1111/pai.12585. PMID: 27116393
Ocular abnormalities of true microcephaly.
Alzial C, Dufier JL, Aicardi J, de Grouchy J, Saraux H
Ophthalmologica 1980;180(6):333-9. doi: 10.1159/000308996. PMID: 6777726

Diagnosis

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.
Silva NÁ, Silva RES, Magalhães AA
BMC Ophthalmol 2024 Aug 26;24(1):372. doi: 10.1186/s12886-024-03627-y. PMID: 39187757Free PMC Article
10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly.
Oliveira D, Leal GF, Sertié AL, Caires LC Jr, Goulart E, Musso CM, Oliveira JRM, Krepischi ACV, Vianna-Morgante AM, Zatz M
J Med Genet 2019 Aug;56(8):543-547. Epub 2018 Oct 9 doi: 10.1136/jmedgenet-2018-105471. PMID: 30301738
A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.
Swartz JM, Akinci A, Andrew SF, Siğirci A, Hirschhorn JN, Rosenfeld RG, Dauber A, Hwa V
Horm Res Paediatr 2014;82(5):344-52. Epub 2014 Nov 1 doi: 10.1159/000368192. PMID: 25376329Free PMC Article

Therapy

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature.
Olbrich P, Lorenz M, Cura Daball P, Lucena JM, Rensing-Ehl A, Sanchez B, Führer M, Camacho-Lovillo M, Melon M, Schwarz K, Neth O, Speckmann C
Pediatr Allergy Immunol 2016 Sep;27(6):640-4. Epub 2016 May 27 doi: 10.1111/pai.12585. PMID: 27116393

Prognosis

A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.
Swartz JM, Akinci A, Andrew SF, Siğirci A, Hirschhorn JN, Rosenfeld RG, Dauber A, Hwa V
Horm Res Paediatr 2014;82(5):344-52. Epub 2014 Nov 1 doi: 10.1159/000368192. PMID: 25376329Free PMC Article

Clinical prediction guides

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny A, Curry CJ, Graham JM Jr, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro RV
Clin Genet 2021 Apr;99(4):547-557. Epub 2021 Jan 13 doi: 10.1111/cge.13912. PMID: 33381861
Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature.
Olbrich P, Lorenz M, Cura Daball P, Lucena JM, Rensing-Ehl A, Sanchez B, Führer M, Camacho-Lovillo M, Melon M, Schwarz K, Neth O, Speckmann C
Pediatr Allergy Immunol 2016 Sep;27(6):640-4. Epub 2016 May 27 doi: 10.1111/pai.12585. PMID: 27116393
A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.
Swartz JM, Akinci A, Andrew SF, Siğirci A, Hirschhorn JN, Rosenfeld RG, Dauber A, Hwa V
Horm Res Paediatr 2014;82(5):344-52. Epub 2014 Nov 1 doi: 10.1159/000368192. PMID: 25376329Free PMC Article
Human ASPM participates in spindle organisation, spindle orientation and cytokinesis.
Higgins J, Midgley C, Bergh AM, Bell SM, Askham JM, Roberts E, Binns RK, Sharif SM, Bennett C, Glover DM, Woods CG, Morrison EE, Bond J
BMC Cell Biol 2010 Nov 2;11:85. doi: 10.1186/1471-2121-11-85. PMID: 21044324Free PMC Article

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