Academic Journal
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review
| Title: | De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review |
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| Authors: | Maria Anna Siano, Ilaria De Maggio, Roberta Petillo, Dario Cocciadiferro, Emanuele Agolini, Massimo Majolo, Antonio Novelli, Matteo Della Monica, Carmelo Piscopo |
| Source: | Pediatric Reports, Vol 14, Iss 1, Pp 131-139 (2022) |
| Publisher Information: | MDPI AG, 2022. |
| Publication Year: | 2022 |
| Collection: | LCC:Medicine LCC:Pediatrics |
| Subject Terms: | KMT2C, Kleefstra syndrome 2, intellectual disability, Medicine, Pediatrics, RJ1-570 |
| More Details: | Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face anomalies. A systematic literature review was also performed. The patient was a 6-year-old Caucasian female. In the family history there was no intellectual disability or genetic conditions. Auxological parameters at birth were adequate for gestational age. Clinical evaluation at 6 months revealed hypotonia and, successively, delay in the acquisition of the stages of psychomotor development. Auditory, visual, somatosensory, and motor-evoked potentials were normal. A brain MRI, performed at 9 months, showed minimal gliotic changes in bilateral occipital periventricular white matter. Neuropsychiatric control, performed at 5 years, established a definitive diagnosis of childhood autism and developmental delay. Molecular analysis of the exome revealed a novel KMT2C missense variant: c.9244C > T (p.Pro3082Ser) at a heterozygous state, giving her a diagnosis of Kleefstra syndrome 2. Parents did not show the variant. Literature review (four retrieved eligible studies, 10 patients) showed that all individuals had mild, moderate, or severe ID; language and motor delay; and autism. Short stature, microcephaly, childhood hypotonia and plagiocephaly were also present. Conclusion. Kleefstra syndrome 2 is a difficult diagnosis of a rare condition with a high clinical phenotypic heterogeneity. This study suggests that it must be taken in account in the work-up of an orphan diagnosis of intellectual disability and/or autism spectrum disorder. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2036-7503 |
| Relation: | https://www.mdpi.com/2036-7503/14/1/19; https://doaj.org/toc/2036-7503 |
| DOI: | 10.3390/pediatric14010019 |
| Access URL: | https://doaj.org/article/7a2fcbe8df4944f7a4b80ee74d2d00d9 |
| Accession Number: | edsdoj.7a2fcbe8df4944f7a4b80ee74d2d00d9 |
| Database: | Directory of Open Access Journals |
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| ISSN: | 20367503 |
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| DOI: | 10.3390/pediatric14010019 |
| Published in: | Pediatric Reports |
| Language: | English |