Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
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| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
|---|---|
| Other names | Intellectual disability-craniofacial anomalies-cardiac defects syndrome, Arboleda-Tham syndrome, KAT6A syndrome, autosomal dominant intellectual disability 32, (obsolete) autosomal dominant mental retardation 32 |
| Specialty | Medical genetics |
| Symptoms | Multi-systemic |
| Complications | Death with untreated cardiac defects |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Poor if untreated |
| Frequency | Rare, only 78 cases have been described in medical literature. |
| Deaths | - |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is a rare genetic disorder which is characterized by multi-systemic symptoms primarily affecting the intellect and post-natal development.
Signs and symptoms[edit]
Symptoms within people with the disorder vary, but they are generally the following:[1]
Intellectual[edit]
Developmental[edit]
- Widespread developmental delays
- Speech delays (which can sometimes last into adulthood)
- Feeding difficulties
Intestinal[edit]
- Acid reflux
- Chronic constipation
Cardiac[edit]
Ocular[edit]
- Strabismus
- Amblyopia
- Refractory errors
Facial[edit]
- Broad nose
- Thin upper lip
- Bitemporal narrowing
- Microcephaly
Less common symptoms include craniosynostosis, autism, sleep disturbance, epilepsy, recurrent viral infections.
Complications[edit]
Children with the disorder can often have various complications if the disorder goes unnoticed and untreated, for example, the cardiac defects can result in health problems and often, death, the behavioural problems can lead to an unstable (if it is existing) social life, low self esteem, and depression, the ocular problems can result in visual impairment, etc.[citation needed]
Causes[edit]
This condition is caused by heterozygous mutations in the KAT6A gene, in chromosome 8.[2][3] These mutations are often sporadic, and are either frameshift,[4] missense, and nonsense.[5]
Diagnosis[edit]
Diagnosis of the disorder is established by gene sequencing.[1]
Treatment[edit]
Treatment is done on the symptoms the condition causes, a few examples would include therapy sessions for the behavioral problems, corrective surgery for the cardiac defects, etc.[citation needed]
Epidemiology[edit]
According to OMIM,[6] 78 cases have been described in medical literature.[2][4][5][7][8]
References[edit]
- ^ a b Dias, Patricia; Neves, Mariana, eds. (March 2021). "Autosomal dominant intellectual disability craniofacial anomalies cardiac defects syndrome". Orphanet. Retrieved 2023-02-15.
- ^ a b "Arboleda-Tham syndrome". yeastgenome.org. Retrieved 2022-06-24.
- ^ Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, et al. (March 2015). "De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay". American Journal of Human Genetics. 96 (3): 498–506. doi:10.1016/j.ajhg.2015.01.017. PMC 4375619. PMID 25728775.
- ^ a b Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, et al. (July 2016). "Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder". American Journal of Medical Genetics. Part A. 170 (7): 1791–1798. doi:10.1002/ajmg.a.37670. PMID 27133397. S2CID 23829096.
- ^ a b Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, et al. (April 2019). "KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants". Genetics in Medicine. 21 (4): 850–860. doi:10.1038/s41436-018-0259-2. PMC 6634310. PMID 30245513.
- ^ "OMIM Entry - # 616268 - Arboleda-Tham Syndrome". omim.org. Retrieved 2022-06-24.
- ^ Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, et al. (March 2015). "Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features". American Journal of Human Genetics. 96 (3): 507–513. doi:10.1016/j.ajhg.2015.01.016. PMC 4375419. PMID 25728777.
- ^ Lin YF, Lin TC, Kirby R, Weng HY, Liu YM, Niu DM, et al. (December 2020). "Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay". Molecular Genetics and Metabolism Reports. 25: 100686. doi:10.1016/j.ymgmr.2020.100686. PMC 7723794. PMID 33318932.