CDK13-related disorder

CDK13-related disorder
Other namesCongenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD),[1] CDK13-related CHDFIDD[1]
Typical facial appearance of an individual with CDK13-related disorder
SpecialtyMedical genetics Edit this on Wikidata
SymptomsCongenital heart defects, intellectual disability, characteristic facial features, gastrointestinal dysmotility[2]
CausesGenetic (autosomal dominant mutation in CDK13)[3]
Diagnostic methodGenetic testing[2]
TreatmentGastroprokinetic medication, gastrostomy, speech therapy, assistive communication devices[2]
PrognosisNot yet certain. A few patients in mid-adulthood identified.[3]
FrequencyNot yet known. At least 44 individuals diagnosed as of January 2019.[3]

CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features. Those affected typically have motor and language delays, low muscle tone and gastrointestinal dysmotility. Facial features include a wide nasal bridge, widely-spaced eyes, prominent, low-set ears, a flat nose tip and a small mouth.[2][3] Less common features include congenital spinal abnormalities, hearing loss or seizures.[2][4]

The syndrome is caused by a mutation in the CDK13 gene, which encodes the protein cyclin-dependent kinase 13. Cyclin-dependent kinases are protein kinases, which are critical for regulating DNA transcription for cell differentiation. CDK13 promotes expression of genes involved in various developmental processes, and these processes are disrupted or not completed when the gene is mutated.[1][3][5] The syndrome is diagnosed when genetic testing confirms a mutation in CDK13.[2]

Treatment centres around the symptoms. Medication or, in severe cases, gastrostomy can be used for the gastrointestinal dysmotility.[2][3][6] Speech therapy as early as possible or assistive communication devices can aid language development.[1][2][7] The prognosis is not certain as of yet, due to the lack of known patients, however a few patients in mid-adulthood have been identified.[3]

As of January 2019, at least 44 individuals with the condition had been identified and studied.[3] Mutations in CDK13 were first identified as pathogenic in a 2016 cohort study,[3][8] and the disorder was first outlined by Bostwick et al. in 2017, who also established the name CHDFIDD.[1]

  1. ^ a b c d e Cite error: The named reference :0 was invoked but never defined (see the help page).
  2. ^ a b c d e f g h Bostwick, Bret (2019), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "CDK13-Related Disorder", GeneReviews®, University of Washington, Seattle, PMID 30702837, retrieved 2 December 2019
  3. ^ a b c d e f g h i Hamilton, Mark James; Suri, Mohnish (1 January 2019), Kumar, Dhavendra (ed.), Chapter Five - CDK13-related disorder, Advances in Genetics, vol. 103, Academic Press, pp. 163–182, doi:10.1016/bs.adgen.2018.11.001, ISBN 978-0-12-817159-2, PMID 30904094, S2CID 85497118, retrieved 2 December 2019
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