Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.
Abnormalities, Multiple
/ ethnology
Adult
Aging
Chromosome Deletion
Chromosomes, Human, Pair 17
/ genetics
Ethnicity
/ genetics
Face
/ abnormalities
Female
Heart Septal Defects, Atrial
/ genetics
Humans
India
Infant, Newborn
Infant, Premature
Infant, Premature, Diseases
/ genetics
Intellectual Disability
/ ethnology
Malocclusion, Angle Class III
/ genetics
Nuclear Proteins
/ genetics
Phenotype
Sequence Deletion
Indian ethnicity
KANSL1
Koolen-de Vries syndrome (KdVS)
developmental disorders of chromatin remodeling (DDCRs)
intellectual disability (ID)
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
24
12
2019
revised:
05
08
2020
accepted:
11
11
2020
pubmed:
15
12
2020
medline:
20
7
2021
entrez:
14
12
2020
Statut:
ppublish
Résumé
Koolen-de Vries syndrome (KdVS, MIM#610443) is a rare malformation condition mainly characterized by cognitive impairment in association with craniofacial and visceral anomalies. The core phenotype is caused by mutations in the chromatin remodeler KANSL1 (MSL1V1, KIAA1267, KAT8 Regulatory NSL Complex Subunit 1, MIM#612452), which maps to 17q21.31 critical genomic region (Koolen et al., Nature Genetics 2012;44:639-641). Considering its molecular basis, KdVS is included in the group of Developmental Disorders of Chromatin Remodeling (DDCRs), also termed chromatinopathies. We describe the first KdVS patient of Southern India ethnicity, harboring the typical de novo 17q21.31 microdeletion, including KANSL1. Observed facial features and congenital anomalies are in line with the already reported KdVS phenotype, suggesting that phenotypic features are consistent across different ethnicities.
Identifiants
pubmed: 33314579
doi: 10.1002/ajmg.a.62006
doi:
Substances chimiques
NSL1 protein, human
0
Nuclear Proteins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
978-981Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
Hall, J. (2007). Handbook of physical measurements (2nd ed.). Oxford: Oxford University Press Inc.
Hardy, D. K., Cubas, Y. P., & Orellana, M. F. (2012). Prevalence of angle class III malocclusion: A systematic review and meta-analysis. Open Epidemiology Journal, 2, 75-82. https://doi, https://doi.org/10.4236/ojepi.2012.24012
Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., … de Vries, B. B. A. (2012). Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nature Genetics, 44, 639-641. https://doi, https://doi.org/10.1038/ng.2262
Koolen, D.A., Pfundt, R., Linda, K., …, de Vries, B.B.A. (2015). The Koolen-de Vries syndrome: A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. European Journal of Human Genetics, 24(5),652-9. https://doi: https://doi.org/10.1038/ejhg.2015.178.
Koolen, D. A., Sharp, A. J., Hurst, J. A., … de Vries, B. B. A. (2008). Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics, 45, 710-720. https://doi, https://doi.org/10.1136/jmg.2008.058701
Villar, J., Giuliani, F., Bhutta, Z. A., … Kennedy, S. H. (2015). Postnatal growth standards for preterm infants: The preterm postnatal follow-up study of the INTERGROWTH-21st project. The Lancet Global Health, 3(11), 681-691. https://doi, https://doi.org/10.1016/S2214-109X(15)00163-1
Zollino, M., Marangi, G., Ponzi, E., Orteschi, D., Ricciardi, S., Lattante, S., … Zackai, E. (2015). Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: Broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. Journal of Medical Genetics, 52(12), 804-814. http://doi, https://doi.org/10.1136/jmedgenet-2015-103184