Phenotypic and Brain Imaging Findings Associated With a 10p Proximal Deletion Including the WAC Gene: Case Report and Literature Review.
Journal
Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology
ISSN: 1543-3641
Titre abrégé: Cogn Behav Neurol
Pays: United States
ID NLM: 101167278
Informations de publication
Date de publication:
01 09 2022
01 09 2022
Historique:
received:
07
11
2021
accepted:
05
02
2022
pubmed:
30
6
2022
medline:
9
9
2022
entrez:
29
6
2022
Statut:
epublish
Résumé
Microarray-based techniques are an important testing method in etiological studies of intellectual disability and autism spectrum disorder. Interstitial deletion in the p11-p12 region of chromosome 10 is rare, having been reported in just 12 cases to date. Intellectual disability associated with the WAC gene in this region is referred to as DeSanto-Shinawi syndrome . Although all individuals with p11-p12 region of chromosome 10 deletion share a common phenotype involving intellectual disability and dysmorphic features, individuals with DeSanto-Shinawi syndrome usually do not experience the cardiac and neurologic abnormalities or cryptorchidism associated with a 10p11-p12 deletion. With this case report, we aim to expand the phenotypic spectrum of 10p11-p12 deletion. Our patient was a 9-year-old boy with intellectual disability, autism symptoms, dysmorphic features, and behavioral abnormalities. He had no cardiac problems or neurologic symptoms such as hypotonia, feeding difficulties, or seizures. However, he presented cryptorchidism in addition to symptoms that are consistent with DeSanto-Shinawi syndrome. Array comparative genomic hybridization of genomic DNA isolated from a peripheral blood sample revealed a heterozygous deletion in 10p11.23-p12.1, which contains the WAC gene. We discuss our case in the context of a literature review of candidate genes. It is still difficult to establish genotype-phenotype correlations for neurologic, cardiac, and visual symptoms, and cryptorchidism, in individuals with a 10p11-p12 deletion. As more individuals are diagnosed with deletion in this chromosomal region, the associated phenotypes will become clearer.
Identifiants
pubmed: 35766809
doi: 10.1097/WNN.0000000000000309
pii: 00146965-202209000-00008
doi:
Substances chimiques
Adaptor Proteins, Signal Transducing
0
WAC protein, human
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
221-226Informations de copyright
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
Références
Abdelhedi F, El Khattabi L, Essid N, et al. 2016. A de novo 10p11.23–p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders. Am J Med Genet A. 170:1912–1917. doi:10.1002/ajmg.a.37686
doi: 10.1002/ajmg.a.37686
Alawadhi A, Morgan AT, Mucha BE, et al. 2021. Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants. Eur J Paediatr Neurol. 30:25–28. doi:10.1016/j.ejpn.2020.12.010
doi: 10.1016/j.ejpn.2020.12.010
DeSanto C, D’Aco K, Araujo GC, et al. 2015. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11. 23 microdeletion syndrome. J Med Genet. 52:754–761. doi:10.1136/jmedgenet-2015-103069
doi: 10.1136/jmedgenet-2015-103069
Leonardi E, Bellini M, Aspromonte MC, et al. 2020. A novel WAC loss of function mutation in an individual presenting with encephalopathy related to status epilepticus during sleep (ESES). Genes (Basel). 11:344. doi:10.3390/genes11030344
doi: 10.3390/genes11030344
Mroczkowski HJ, Arnold G, Schneck FX, et al. 2014. Interstitial 10p11. 23–p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism. Am J Med Genet A. 164:2623–2626. doi:10.1002/ajmg.a.36627
doi: 10.1002/ajmg.a.36627
Okamoto N, Hayashi S, Masui A, et al. 2012. Deletion at chromosome 10p11.23–p12.1 defines characteristic phenotypes with marked midface retrusion. J Hum Genet. 57:191–196. doi:10.1038/jhg.2011.154
doi: 10.1038/jhg.2011.154
Shahdadpuri R, de Vries B, Pfundt R, et al. 2008. Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion. Am J Med Genet A. 146:233–237. doi:10.1002/ajmg.a.32088
doi: 10.1002/ajmg.a.32088
Sosoi S, Streata I, Tudorache S, et al. 2015. Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22–p12.31. J Hum Genet. 60:183–185. doi:10.1038/jhg.2015.4
doi: 10.1038/jhg.2015.4
Varvagiannis K, de Vries BBA, Vissers LELM. 2017. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. Gene Reviews . Seattle, Washington, University of Washington.
Wentzel C, Rajcan-Separovic E, Ruivenkamp CAL, et al. 2011. Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. Eur J Hum Genet. 19:959–964. doi:10.1038/ejhg.2011.71
doi: 10.1038/ejhg.2011.71