Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3
| Autor: | Jerzy Bal, Olga Malinowska, Jennifer Castaneda, Mateusz Dawidziuk, Maria Boczar, Aleksandra Landowska, Ewa Obersztyn, Agata Runge, Marta Smyk, Beata Nowakowska, Katarzyna Niepokój, Karolina Rutkowska, Magdalena Paczkowska, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Ewa Kostyk, Barbara Wiśniowiecka-Kowalnik, Aleksandra Pietrzyk, Jakub Klapecki, Ewa Kalka, Artur Barczyk, Krzysztof Szczałuba, Monika Gos, Tomasz Gambin, Beata S. Lipska-Ziętkiewicz, Pawel Szyld, Rafał Płoski |
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| Rok vydání: | 2021 |
| Předmět: |
Male
speech delay Pediatrics Psychomotor agitation psychomotor hyperactivity ANKRD11 gene 16q24.3 dysmorphic syndrome hoarse voice Child Genetics (clinical) Exome sequencing wide delayed closing fontanels Comparative Genomic Hybridization KBG syndrome Phenotype Child Preschool Speech delay Female medicine.symptom Adult medicine.medical_specialty Adolescent Dwarfism Chromosomal rearrangement Short stature Article Young Adult Intellectual Disability Exome Sequencing Genetics medicine Humans Abnormalities Multiple Genetic Predisposition to Disease Gene Chromosome Aberrations Bone Diseases Developmental Tooth Abnormalities business.industry Facies Infant medicine.disease short stature Repressor Proteins Hoarse voice Macrodontia (tooth) Mutation business Chromosomes Human Pair 16 |
| Zdroj: | Genes Volume 12 Issue 8 |
| ISSN: | 2073-4425 |
| DOI: | 10.3390/genes12081257 |
| Popis: | KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a mutation in the ANKRD11 gene or a chromosomal rearrangement involving this gene. We hereby present clinical evaluations of 23 patients aged 4 months to 26 years manifesting clinical features of KBG syndrome. Mutation analysis in the patients was performed using panel or exome sequencing and array CGH. Besides possessing dysmorphic features typical of the KBG syndrome, nearly all patients had psychomotor hyperactivity (86%), 81% had delayed speech, 61% had poor weight gain, 56% had delayed closure of fontanel and 56% had a hoarse voice. Macrodontia and a height range of −1 SDs to −2 SDs were noted in about half of the patients only two patients presented with short stature below −3 SDs. The fact that wide, delayed closing fontanels were observed in more than half of our patients with KBG syndrome confirms the role of the ANKRD11 gene in skull formation and suture fusion. This clinical feature could be key to the diagnosis of KBG syndrome, especially in young children. Hoarse voice is a previously undescribed phenotype of KBG syndrome and could further reinforce clinical diagnosis. |
| Databáze: | OpenAIRE |
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