Genetic (autosomal dominant mutation in HNRNPK)[4]
Diagnostic method
Based on symptoms, genetic testing[4]
Treatment
Symptomatic[4]
Prognosis
Not yet certain. Most patients have at least lived through childhood; mortality in infancy in a minority.[5]
Frequency
Not yet known. 26 individuals known to be affected as of May 2019[update].[1][4]
Okamoto syndrome (OS), also known as Au–Kline syndrome (AKS), is a very rare autosomal dominant genetic condition characterised by congenital hydronephrosis, low muscle tone, heart defects, intellectual disability and characteristic facial features.[4][6] Those affected often have neurological and skeletal abnormalities, as well as frequent urinary tract infections. Language and walking are usually delayed. Facial features include prominent, downturned ears, an open, downturned mouth and drooping eyelids (ptosis).[4][5]
The syndrome is caused by mutations in the HNRNPK gene, which codes for heterogeneous nuclear ribonucleoprotein K. This protein is involved in the process of DNA transcription and translation into proteins. A mutation in this gene impairs DNA transcription, disrupting some developmental processes.[4][7] As an autosomal dominant disorder, only one faulty copy of the gene is required for the condition to occur. The syndrome is typically diagnosed based on the physical symptoms and then confirmed by genetic testing.[4][5]
Treatment has centred around the symptoms. Sign language and assistive language technology can aid communication.[4][7] The prognosis is not yet fully known, due to the lack of patients in literature, however most of the patients have at least lived through childhood. The urinary system defects have been the most significant contributors to mortality.[5] As of May 2019[update], 26 individuals worldwide were known to be affected.[1][4] The syndrome was first described in 1997 by Nobuhiko Okamoto et al.,[8] and the gene responsible was first identified in 2015 by Ping-Yee Billie Au, Antonie D. Kline et al.[7] In 2019, Okamoto proposed that Au–Kline syndrome and Okamoto syndrome were synonymous.[1]
^ abcdCite error: The named reference :1 was invoked but never defined (see the help page).
^Cite error: The named reference :5 was invoked but never defined (see the help page).
^ abcdefghijklAu, Ping-Yee Billie; Innes, A. Micheil; Kline, Antonie D. (2019), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Au-Kline Syndrome", GeneReviews®, University of Washington, Seattle, PMID 30998304, retrieved 2 December 2019
^ abcdCite error: The named reference :4 was invoked but never defined (see the help page).
^"Orphanet: Okamoto syndrome". www.orpha.net. Retrieved 30 November 2019.
^ abcAu, P.Y. Billie; You, Jing; Caluseriu, Oana; Schwartzentruber, Jeremy; Majewski, Jacek; Bernier, Francois P.; Ferguson, Marcia; Valle, David; Parboosingh, Jillian S.; Sobreira, Nara; Innes, A. Micheil (October 2015). "GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK". Human Mutation. 36 (10): 1009–1014. doi:10.1002/humu.22837. ISSN 1059-7794. PMC 4589226. PMID 26173930.
^Cite error: The named reference :3 was invoked but never defined (see the help page).
Okamotosyndrome (OS), also known as Au–Kline syndrome (AKS), is a very rare autosomal dominant genetic condition characterised by congenital hydronephrosis...
LE, Bourne K, Green EA, Shibao CA, Okamoto LE, et al. (October 2019). "The face of postural tachycardia syndrome - insights from a large cross-sectional...
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems...
Udagawa T, Okada S, Okamoto T, et al. (February 2019). "A review of clinical characteristics and genetic backgrounds in Alport syndrome". Clinical and Experimental...
Kline, two of the researchers involved. The syndrome was later shown in 2019 to be identical to Okamotosyndrome, described in 1997. In 2015, the service...
November 2010. Retrieved 22 July 2009. Kanbayashi Y, Onishi K, Fukazawa K, Okamoto K, Ueno H, Takagi T, Hosokawa T (2012). "Predictive Factors for Postherpetic...
tender. Complications may include shock and acute respiratory distress syndrome. Causes include perforation of the intestinal tract, pancreatitis, pelvic...
Pau. "Chapter XVIII.16. Developmental Brain Anomalies". In Jeffrey K. Okamoto; et al. (eds.). Case Based Pediatrics For Medical Students and Residents...
effects may include hallucinations, seizures, increased risk of serotonin syndrome, decreased alertness, and drug addiction. A change in dosage may be recommended...
82 (1998) - Mika Eko Eko Azaraku: The Series (1997) TV series - Kaoru Okamoto Eko eko azaraku II (1996) - Shoko Takanashi Sakura no sono (1990) - Kumi...
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum (or absent corpus callosum cataract...
Transliteration: "Suzumiya Haruhi no Taikutsu" (Japanese: 涼宮ハルヒの退屈) Shinobu Okamoto Katsuhiko Muramoto April 23, 2006 (2006-04-23) May 15, 2009 8 7 In an effort...
RNA, U12 small nuclear". Retrieved 2018-03-22. Madan V, Kanojia D, Li J, Okamoto R, Sato-Otsubo A, Kohlmann A, Sanada M, Grossmann V, Sundaresan J, Shiraishi...
Novelbright Number Girl Oblivion Dust Off Course Official Hige Dandism Okamoto's Oldcodex One Ok Rock The Oral Cigarettes Orange Range Outrage (band) P'unk-en-Ciel...
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