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Condition report · Neurological

Alkuraya-Kucinskas Syndrome

A rare condition in which the brain does not develop fully before birth, often with stiff joints and clubfoot. It is caused by changes in both copies of the BLTP1 gene (previously called KIAA1109).

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of the BLTP1 gene (formerly KIAA1109), which encodes a large protein involved in moving lipids between membranes in cells.

Signs and symptoms

Often recognised before birth, with enlarged brain ventricles, underdeveloped brain tissue, joint contractures (arthrogryposis) and clubfoot.

What a diagnosis changes

Care is supportive and guided by neurology, respiratory and orthopaedic needs. Parents of an affected child are usually both carriers, so genetic counselling, carrier testing and options for prenatal testing can be discussed.

Genes analysed

Also known as

ALKKUCS

MONDO:0060631OMIM 617822Orphanet 610569MedGen 1634304Sources: [1][2][3]

References

  1. Rice SM, Varotsis DF, Wodoslawsky S, Critchlow E, Liu R, McLaren RA et al., 2024. Prenatal Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review. Prenatal diagnosis
  2. Pandey T, Zhang J, Wang B, Ma DK, 2024. Bridge-Like Lipid Transfer Proteins (BLTPs) in C. elegans: From Genetics to Structures and Functions. Contact (Thousand Oaks (Ventura County, Calif.))
  3. Wang C, Wang B, Pandey T, Long Y, Zhang J, Oh F et al., 2022. A conserved megaprotein-based molecular bridge critical for lipid trafficking and cold resilience. Nature communications

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