Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site <i>DDX3X</i> Variant: A Case Report of a Rare Clinical Syndrome
Background. Heterozygous pathogenic variants in the <i>DDX3X</i> gene account for 1–3% of females with intellectual and developmental disabilities (IDD). The clinical presentation is variable, including a wide range of neurological and behavioral deficits and structural defects of the br...
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MDPI AG
2022-03-01
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| Series: | Brain Sciences |
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| Online Access: | https://www.mdpi.com/2076-3425/12/3/390 |
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| author | Urszula Stefaniak Roksana Malak Ewa Mojs Włodzimierz Samborski |
| author_facet | Urszula Stefaniak Roksana Malak Ewa Mojs Włodzimierz Samborski |
| author_sort | Urszula Stefaniak |
| collection | DOAJ |
| description | Background. Heterozygous pathogenic variants in the <i>DDX3X</i> gene account for 1–3% of females with intellectual and developmental disabilities (IDD). The clinical presentation is variable, including a wide range of neurological and behavioral deficits and structural defects of the brain. Approximately 52% of affected females remain nonverbal after five years of age. Case presentation: We report a 7 year old nonverbal female with a likely novel de novo pathogenic heterozygous variant in the <i>DDX3X</i> gene affecting the non-canonical splice-site in the intron 1 (NM_001356:c.45+12G>A). The patient presents with features typical for the <i>DDX3X</i> phenotype, such as: movement disorders, behavioral problems, a diagnosis of autism spectrum disorder (ASD), and some other features uncommon for <i>DDX3X</i> such as: muscle hypertonia and spinal asymmetry evaluated through the scoliometer. Conclusions. Due to its rare occurrence, the clinical picture of <i>DDX3X</i> syndrome is yet to be fully determined. So far, behavioral disorders, including those from ASD, and neurological abnormalities seem to be the dominant features of this disorder. |
| first_indexed | 2024-03-09T20:03:29Z |
| format | Article |
| id | doaj.art-04e68c063cf04e45b0cea5bf5e2902b7 |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-09T20:03:29Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-04e68c063cf04e45b0cea5bf5e2902b72023-11-24T00:38:20ZengMDPI AGBrain Sciences2076-34252022-03-0112339010.3390/brainsci12030390Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site <i>DDX3X</i> Variant: A Case Report of a Rare Clinical SyndromeUrszula Stefaniak0Roksana Malak1Ewa Mojs2Włodzimierz Samborski3Department of Clinical Psychology, Poznań University of Medical Sciences, 60-812 Poznań, PolandDepartment and Clinic of Rheumatology, Rehabilitation and Internal Medicine, Poznań University of Medical Sciences, 61-545 Poznań, PolandDepartment of Clinical Psychology, Poznań University of Medical Sciences, 60-812 Poznań, PolandDepartment and Clinic of Rheumatology, Rehabilitation and Internal Medicine, Poznań University of Medical Sciences, 61-545 Poznań, PolandBackground. Heterozygous pathogenic variants in the <i>DDX3X</i> gene account for 1–3% of females with intellectual and developmental disabilities (IDD). The clinical presentation is variable, including a wide range of neurological and behavioral deficits and structural defects of the brain. Approximately 52% of affected females remain nonverbal after five years of age. Case presentation: We report a 7 year old nonverbal female with a likely novel de novo pathogenic heterozygous variant in the <i>DDX3X</i> gene affecting the non-canonical splice-site in the intron 1 (NM_001356:c.45+12G>A). The patient presents with features typical for the <i>DDX3X</i> phenotype, such as: movement disorders, behavioral problems, a diagnosis of autism spectrum disorder (ASD), and some other features uncommon for <i>DDX3X</i> such as: muscle hypertonia and spinal asymmetry evaluated through the scoliometer. Conclusions. Due to its rare occurrence, the clinical picture of <i>DDX3X</i> syndrome is yet to be fully determined. So far, behavioral disorders, including those from ASD, and neurological abnormalities seem to be the dominant features of this disorder.https://www.mdpi.com/2076-3425/12/3/390<i>DDX3X</i>intellectual and developmental disabilities (IDD)autism spectrum disorders (ASD)rare disease |
| spellingShingle | Urszula Stefaniak Roksana Malak Ewa Mojs Włodzimierz Samborski Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site <i>DDX3X</i> Variant: A Case Report of a Rare Clinical Syndrome Brain Sciences <i>DDX3X</i> intellectual and developmental disabilities (IDD) autism spectrum disorders (ASD) rare disease |
| title | Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site <i>DDX3X</i> Variant: A Case Report of a Rare Clinical Syndrome |
| title_full | Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site <i>DDX3X</i> Variant: A Case Report of a Rare Clinical Syndrome |
| title_fullStr | Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site <i>DDX3X</i> Variant: A Case Report of a Rare Clinical Syndrome |
| title_full_unstemmed | Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site <i>DDX3X</i> Variant: A Case Report of a Rare Clinical Syndrome |
| title_short | Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site <i>DDX3X</i> Variant: A Case Report of a Rare Clinical Syndrome |
| title_sort | autistic like behaviors associated with a novel non canonical splice site i ddx3x i variant a case report of a rare clinical syndrome |
| topic | <i>DDX3X</i> intellectual and developmental disabilities (IDD) autism spectrum disorders (ASD) rare disease |
| url | https://www.mdpi.com/2076-3425/12/3/390 |
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