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Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

AI overview

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is a rare genetic disorder characterized by multi-systemic symptoms primarily affecting the intellect and post-natal development.

Key points
  • The condition is caused by heterozygous mutations in the KAT6A gene on chromosome 8.
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    This condition is caused by heterozygous mutations in the KAT6A gene, in chromosome 8 .
  • 78 cases have been described in medical literature.
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    78 cases have been described in medical literature.
Symptoms
  • Intellectual disabilities are a primary symptom.
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    Intellectual disabilities
  • Patients experience widespread developmental delays.
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    Widespread developmental delays
  • Speech delays can occur and may last into adulthood.
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    Speech delays (which can sometimes last into adulthood)
  • Feeding difficulties are present.
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    Feeding difficulties
  • Gastrointestinal symptoms include acid reflux and chronic constipation.
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    Acid reflux Chronic constipation
  • Cardiac defects include atrial septal defect, ventricular septal defect, patent foramen ovale, and persistent ductus arteriosus.
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    Atrial septal defect Ventricular septal defect Patent foramen ovale Persistent ductus arteriosus
  • Ocular symptoms include strabismus, amblyopia, and refractory errors.
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    Strabismus Amblyopia Refractory errors
  • Facial features include broad nose, thin upper lip, bitemporal narrowing, microcephaly, and round face.
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    Broad nose Thin upper lip Bitemporal narrowing Microcephaly Round face
  • Less common symptoms include craniosynostosis, autism, sleep disturbance, epilepsy, and recurrent viral infections.
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    Less common symptoms include craniosynostosis , autism , sleep disturbance, epilepsy , recurrent viral infections
Diagnosis
  • Diagnosis is established by gene sequencing.
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    Diagnosis of the disorder is established by gene sequencing.
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Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Other namesIntellectual disability-craniofacial anomalies-cardiac defects syndrome, Arboleda-Tham syndrome, KAT6A syndrome, autosomal dominant intellectual disability 32, (obsolete) autosomal dominant mental retardation 32
SpecialtyMedical genetics
SymptomsMulti-systemic
ComplicationsDeath with untreated cardiac defects
Usual onsetBirth
DurationLifelong
CausesGenetic mutation
PreventionNone
PrognosisPoor if untreated
FrequencyRare, 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.

Symptoms within people with the disorder vary, but they are generally the following:[1]

Intellectual

Developmental

Intestinal

Cardiac

Ocular

Facial

  • Broad nose
  • Thin upper lip
  • Bitemporal narrowing
  • Microcephaly
  • Round face

Less common symptoms include craniosynostosis, autism, sleep disturbance, epilepsy, recurrent viral infections.

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 of the disorder is established by gene sequencing.[1]

According to OMIM,[6] 78 cases have been described in medical literature.[2][4][5][7][8]

  1. 1 2 Dias, Patricia; Neves, Mariana, eds. (March 2021). "Autosomal dominant intellectual disability craniofacial anomalies cardiac defects syndrome". Orphanet. Retrieved 2023-02-15.
  2. 1 2 "Arboleda-Tham syndrome". yeastgenome.org. Retrieved 2022-06-24.
  3. ↑ 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.
  4. 1 2 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.
  5. 1 2 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.
  6. ↑ "OMIM Entry - # 616268 - Arboleda-Tham Syndrome". omim.org. Retrieved 2022-06-24.
  7. ↑ 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.
  8. ↑ 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.