Potocki-Lupski syndrome
Última actualización 13 Jul 2023
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Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11.2. This condition is also known as 17p11.2 duplication syndrome.
Descripción
Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11.2. This condition is also known as 17p11.2 duplication syndrome.
Infants with Potocki-Lupski syndrome may have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia) that lead to feeding problems. Some affected babies do not grow and gain weight at the expected rate (described as failure to thrive), and children with this condition tend to be shorter and weigh less than their peers. About 40 percent of babies with Potocki-Lupski syndrome are born with a heart defect, which in some cases is life-threatening.
Babies and children with Potocki-Lupski syndrome have delayed development, including delayed speech and language skills and gross motor skills such sitting, standing, and walking. As they get older, affected individuals have intellectual disability, which is usually mild to moderate, and ongoing difficulties with speech. Potocki-Lupski syndrome is also associated with behavioural problems, which can include attention problems, hyperactivity, compulsive or impulsive behaviors, and anxiety. Many people with this condition have charateristics of autism spectrum disorder, which affects social interaction and communication.
Other signs and symptoms of Potocki-Lupski syndrome can include vision and hearing problems, dental and skeletal abnormalities, and abnormal kidney development and function. Many affected individuals have problems with sleep, including short pauses in breathing during sleep (sleep apnea) and trouble falling asleep and staying asleep. The condition can also have subtle differences in facial features, including outside corners of the eyes that point downward (down-slanting palpebral fissures), a triangular face with a broad forehead and a small jaw (micrognathia), and widely spaced eyes (hypertelorism).
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
17p11.2 duplication syndrome
17p11.2 microduplication syndrome
Chromosome 17p11.2 duplication syndrome
Dup(17)(p11.2p11.2)
Duplication 17p11.2 syndrome
PLS
PTLS
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Lecturas adicionales y referencias
- Potocki-Lupski syndrome; MedlinePlus, National Library of Medicine.
- Ciaccio C, Pantaleoni C, Milani D, Alfei E, Sciacca FL, Canafoglia L, Erbetta A, D'Arrigo S. Neurological phenotype of Potocki-Lupski syndrome. Am J Med Genet A. 2020 Oct;182(10):2317-2324. doi: 10.1002/ajmg.a.61789. Epub 2020 Aug 15.
- Franciskovich R, Soler-Alfonso C, Neira-Fresneda J, Lupski JR, McCann-Crosby B, Potocki L. Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS. Am J Med Genet A. 2020 Sep;182(9):2077-2084. doi: 10.1002/ajmg.a.61741. Epub 2020 Jul 13.
- Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R. Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25.
- Kolbasin LN, Dubrovskaya TA, Salnikova GB, Solovieva EN, Donnikov MY, Illarionov RA, Glotov AS, Kovalenko LV, Belotserkovtseva LD. Family case of Potocki-Lupski syndrome. Mol Cytogenet. 2024 Mar 22;17(1):6. doi: 10.1186/s13039-024-00673-5.
- Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L. Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet A. 2014 Feb;164A(2):500-4. doi: 10.1002/ajmg.a.36287. Epub 2013 Dec 5.
- Neira-Fresneda J, Potocki L. Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes. J Pediatr Genet. 2015 Sep;4(3):159-67. doi: 10.1055/s-0035-1564443. Epub 2015 Sep 28.
- Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr;80(4):633-49. doi: 10.1086/512864. Epub 2007 Feb 26.
- Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet. 2000 Jan;24(1):84-7. doi: 10.1038/71743.
- Potocki L, Neira-Fresneda J, Yuan B. Potocki-Lupski Syndrome. 2017 Aug 24. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK447920/
- Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F, Lupski JR, Fraley JK, Potocki L. Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr. 2011 Apr;158(4):655-659.e2. doi: 10.1016/j.jpeds.2010.09.062. Epub 2010 Dec 17.
- Treadwell-Deering DE, Powell MP, Potocki L. Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). J Dev Behav Pediatr. 2010 Feb-Mar;31(2):137-43. doi: 10.1097/DBP.0b013e3181cda67e.
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