Au-Kline Syndrome

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Yang, C. Au-Kline Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4845 (accessed on 24 September 2026).

Yang C. Au-Kline Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4845. Accessed September 24, 2026.

Yang, Catherine. "Au-Kline Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4845 (accessed September 24, 2026).

Yang, C. (2020, December 24). Au-Kline Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4845

Yang, Catherine. "Au-Kline Syndrome." Encyclopedia. Web. 24 December, 2020.

Au-Kline Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/au-kline-syndrome

Au-Kline syndrome is a condition that affects many body systems. Individuals with this condition typically have weak muscle tone (hypotonia), intellectual disability, and delayed development. Speech is delayed in children with Au-Kline syndrome, and some are able to say only one or a few words or are never able to speak. In addition, affected children learn to walk later than usual, and some are never able to walk on their own.

genetic conditions

References

Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, FanningE, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, ParboosinghJS, Kline AD, Innes AM; Care for Rare Canada Consortium. Phenotypic spectrum ofAu-Kline syndrome: a report of six new cases and review of the literature. Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2.
Au PYB, Innes AM, Kline AD. Au-Kline Syndrome. 2019 Apr 18. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK540283/
Bomsztyk K, Denisenko O, Ostrowski J. hnRNP K: one protein multiple processes.Bioessays. 2004 Jun;26(6):629-38. Review.
Folci A, Mapelli L, Sassone J, Prestori F, D'Angelo E, Bassani S, Passafaro M.Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons. J Neurosci.2014 Jul 2;34(27):9088-95. doi: 10.1523/JNEUROSCI.0303-14.2014.
Hutchins EJ, Szaro BG. c-Jun N-terminal kinase phosphorylation ofheterogeneous nuclear ribonucleoprotein K regulates vertebrate axon outgrowth viaa posttranscriptional mechanism. J Neurosci. 2013 Sep 11;33(37):14666-80. doi:10.1523/JNEUROSCI.4821-12.2013.
Okamoto N, Matsumoto F, Shimada K, Satomura K. New MCA/MR syndrome withgeneralized hypotonia, congenital hydronephrosis, and characteristic face. Am JMed Genet. 1997 Jan 31;68(3):347-9.
Okamoto N. Okamoto syndrome has features overlapping with Au-Kline syndromeand is caused by HNRNPK mutation. Am J Med Genet A. 2019 May;179(5):822-826. doi:10.1002/ajmg.a.61079.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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