5q31.3 microdeletion syndrome
Última actualización 8 Sept 2020
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5q31.3 microdeletion syndrome is a condition characterised by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and difficulty swallowing (dysphagia) can be life-threatening.
Descripción
5q31.3 microdeletion syndrome is a condition characterised by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and difficulty swallowing (dysphagia) can be life-threatening.
5q31.3 microdeletion syndrome is also characterised by distinctive facial features. Such features include a narrow forehead, widely spaced eyes (hypertelorism), an open mouth with an upper lip that points outward (called a tented lip), a high arch in the roof of the mouth (high-arched palate), a small lower jaw (micrognathia), and a lack of facial expression. Some of these features, such as an open mouth with a tented lip and an expressionless face, are thought to be due to hypotonia.
Recurrent seizures (epilepsy) and seizure-like episodes (which can include muscle jerking, twitching, and stiffening), are common in 5q31.3 microdeletion syndrome. Many individuals with 5q31.3 microdeletion syndrome have brain abnormalities, several of which are caused by reduced production of myelin or delayed maturation of myelin. Myelin is the protective covering that insulates nerves and ensures the rapid transmission of nerve impulses.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
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Lecturas adicionales y referencias
- 5q31.3 microdeletion syndrome; MedlinePlus, National Library of Medicine.
- Bonaglia MC, Zanotta N, Giorda R, D'Angelo G, Zucca C. Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. Mol Cytogenet. 2015 Nov 14;8:89. doi: 10.1186/s13039-015-0193-9. eCollection 2015.
- Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, Stark Z. 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. Am J Med Genet A. 2013 Oct;161A(10):2604-8. doi: 10.1002/ajmg.a.36108. Epub 2013 Aug 15.
- Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S. Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A. 2012 Aug;158A(8):1891-6. doi: 10.1002/ajmg.a.35439. Epub 2012 Jun 18.
- Shimojima K, Isidor B, Le Caignec C, Kondo A, Sakata S, Ohno K, Yamamoto T. A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet A. 2011 Apr;155A(4):732-6. doi: 10.1002/ajmg.a.33891. Epub 2011 Mar 15.
- White MK, Johnson EM, Khalili K. Multiple roles for Puralpha in cellular and viral regulation. Cell Cycle. 2009 Feb 1;8(3):1-7. doi: 10.4161/cc.8.3.7585. Epub 2009 Feb 10.
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