KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Abnormalities, Multiple
/ genetics
Bone Diseases, Developmental
/ genetics
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 16
/ genetics
Comparative Genomic Hybridization
Dwarfism
/ genetics
Facies
Female
Genetic Predisposition to Disease
Humans
Intellectual Disability
/ genetics
Male
Phenotype
Repressor Proteins
/ genetics
Tooth Abnormalities
/ genetics
ANKRD11 gene
16q24 deletion
KBG syndrome
macrodontia
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:
05 2020
05 2020
Historique:
received:
17
08
2019
revised:
08
11
2019
accepted:
17
01
2020
pubmed:
4
3
2020
medline:
13
1
2021
entrez:
4
3
2020
Statut:
ppublish
Résumé
KBG syndrome (MIM #148050) is an autosomal dominant disorder characterized by developmental delay, intellectual disability, distinct craniofacial anomalies, macrodontia of permanent upper central incisors, skeletal abnormalities, and short stature. This study describes clinical features of 28 patients, confirmed by molecular testing of ANKRD11 gene, and three patients with 16q24 deletion encompassing ANKRD11 gene, diagnosed in a single center. Common clinical features are reported, together with uncommon findings, clinical expression in the first years of age, distinctive associations, and familial recurrences. Unusual manifestations emerging from present series include juvenile idiopathic arthritis, dysfunctional dysphonia, multiple dental agenesis, idiopathic precocious telarche, oral frenula, motor tics, and lipoma of corpus callosum, pilomatrixoma, and endothelial corneal polymorphic dystrophy. Facial clinical markers suggesting KBG syndrome before 6 years of age include ocular and mouth conformation, wide eyebrows, synophrys, long black eyelashes, long philtrum, thin upper lip. General clinical symptoms leading to early genetic evaluation include developmental delay, congenital malformations, hearing anomalies, and feeding difficulties. It is likely that atypical clinical presentation and overlapping features in patients with multiple variants are responsible for underdiagnosis in KBG syndrome. Improved knowledge of common and atypical features of this disorder improves clinical management.
Identifiants
pubmed: 32124548
doi: 10.1002/ajmg.a.61524
doi:
Substances chimiques
ANKRD11 protein, human
0
Repressor Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1073-1083Informations de copyright
© 2020 Wiley Periodicals, Inc.
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