Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder
Abstract
:1. Introduction
2. Materials and Methods
Recruitment
3. Results
3.1. BGR 1
3.2. BGR 2
3.3. BGR 3
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Total Frequency | BGR 1 (14y M) | BGR 2 (8y M) | BGR 3 (15y M) | |
---|---|---|---|---|
ASH1L Variant (NM_018489.3) | c.1603G>T p.Gly535* | c.4902_4903del, p.Ser1635Cysfs*18 | c.4909C>T, p.Gln1637* | |
Inheritance | De novo | De novo | Unknown | |
Sex | 12 Male/3 Female | Male | Male | Male |
Type of variant | Nonsense | Frameshift | Nonsense | |
ID/DD | 15/16 | + | − | + |
ASD | 6/10 | + | + | + |
Motor delay | 6/12 | − | + | NR |
Speech delay | 6/10 | + | + | NR |
Feeding difficulties | 4/8 | − | + | NR |
Seizures | 6/11 | + | − | + |
Obsessive behaviors | 4/5 | + | + | NR |
ADHD or hyperactivity | 6/7 | + | + | + |
Hypotonia | 4/8 | − | − | + |
Genital malformations | 5/9 | − * | − * | NR |
Sleep disorders | 6/9 | + | − | − |
Pectus carinatum/excavatum | 2/7 | − | − * | NR |
Scoliosis | 2/7 | − | − * | NR |
Dysmetria/ataxic gait | 2/4 | − | + | + |
Hyperopia/Astigmatism/Strabismus/Nystagmus | 6/10 | + | − | − |
Hearing impairment | 3/8 | − | − | + |
Gastrointestinal disturbances | 6/8 | + | + | NR |
Anxiety/Depression | 2/4 | + | − | + |
Facial dysmorphisms | 8/10 | − | − | thin lips |
Additional variants found in TSHZ3 and TNR. | Additional variants found in MED12, POU4F3, and ATP2B2. |
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Cordova, I.; Blesson, A.; Savatt, J.M.; Sveden, A.; Mahida, S.; Hazlett, H.; Rooney Riggs, E.; Chopra, M., on behalf of the Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel. Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder. Genes 2024, 15, 423. https://doi.org/10.3390/genes15040423
Cordova I, Blesson A, Savatt JM, Sveden A, Mahida S, Hazlett H, Rooney Riggs E, Chopra M on behalf of the Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel. Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder. Genes. 2024; 15(4):423. https://doi.org/10.3390/genes15040423
Chicago/Turabian StyleCordova, Ineke, Alyssa Blesson, Juliann M. Savatt, Abigail Sveden, Sonal Mahida, Heather Hazlett, Erin Rooney Riggs, and Maya Chopra on behalf of the Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel. 2024. "Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder" Genes 15, no. 4: 423. https://doi.org/10.3390/genes15040423