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17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome.

Sumathipala DS, Mandawala EN, Sumanasena SP, Dissanayake VH - BMC Res Notes (2015)

Bottom Line: She carried two duplications; one in 17p11.2 consistent with Potocki-Lupski, and one in Xq including the region for X-linked intellectual disability.Despite the absence of expected behavioural symptoms, many features of this patient are in accordance with Potocki-Lupski syndrome.This is the first diagnosed patient in Sri Lanka.

View Article: PubMed Central - PubMed

Affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. dulikasanjeewani@gmail.com.

ABSTRACT

Background: Potocki-Lupski syndrome is a microduplication syndrome associated with duplication at 17p11.2. Features include facial dysmorphism, moderate to mild cognitive impairment and behavioural abnormalities including autism spectrum disorders.

Case presentation: We describe a patient from Sri Lanka that was referred for genetic assessment at 4 years of age due to subtle facial dysmorphism and expressive language impairment. She was diagnosed with Potocki-Lupski syndrome through multiplex ligation probe amplification. She carried two duplications; one in 17p11.2 consistent with Potocki-Lupski, and one in Xq including the region for X-linked intellectual disability.

Conclusion: Despite the absence of expected behavioural symptoms, many features of this patient are in accordance with Potocki-Lupski syndrome. This is the first diagnosed patient in Sri Lanka.

No MeSH data available.


Related in: MedlinePlus

Multiplex ligation probe amplification output showing duplication at 17p11.2 and Xq28 regions
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Fig1: Multiplex ligation probe amplification output showing duplication at 17p11.2 and Xq28 regions

Mentions: Genetic analysis was performed using multiplex ligation probe amplification (MLPA). The SALSA® MLPA® P245 Microdeletion Syndromes-1 probemix (MRC Holland, Amsterdam, The Netherlands) that has been developed to screen patients presenting with unexplained developmental delay and/or mental retardation for multiple microdeletion syndromes was used. This revealed a duplication of 17p11.2. The region included the retinoic acid inducible 1 gene (RAI1) gene which is compatible with PTLS. Apart from the RAI1 gene leucine rich repeat containing 48 (LRRC48) and lethal giant larvae homolog 1 (LLGL1) genes in the 17p11.2 chromosomal region were duplicated. In addition the Xq28 chromosomal region which includes methyl CpG binding protein 2 (MECP2) gene showed duplication (Fig. 1).Fig. 1


17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome.

Sumathipala DS, Mandawala EN, Sumanasena SP, Dissanayake VH - BMC Res Notes (2015)

Multiplex ligation probe amplification output showing duplication at 17p11.2 and Xq28 regions
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4588678&req=5

Fig1: Multiplex ligation probe amplification output showing duplication at 17p11.2 and Xq28 regions
Mentions: Genetic analysis was performed using multiplex ligation probe amplification (MLPA). The SALSA® MLPA® P245 Microdeletion Syndromes-1 probemix (MRC Holland, Amsterdam, The Netherlands) that has been developed to screen patients presenting with unexplained developmental delay and/or mental retardation for multiple microdeletion syndromes was used. This revealed a duplication of 17p11.2. The region included the retinoic acid inducible 1 gene (RAI1) gene which is compatible with PTLS. Apart from the RAI1 gene leucine rich repeat containing 48 (LRRC48) and lethal giant larvae homolog 1 (LLGL1) genes in the 17p11.2 chromosomal region were duplicated. In addition the Xq28 chromosomal region which includes methyl CpG binding protein 2 (MECP2) gene showed duplication (Fig. 1).Fig. 1

Bottom Line: She carried two duplications; one in 17p11.2 consistent with Potocki-Lupski, and one in Xq including the region for X-linked intellectual disability.Despite the absence of expected behavioural symptoms, many features of this patient are in accordance with Potocki-Lupski syndrome.This is the first diagnosed patient in Sri Lanka.

View Article: PubMed Central - PubMed

Affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. dulikasanjeewani@gmail.com.

ABSTRACT

Background: Potocki-Lupski syndrome is a microduplication syndrome associated with duplication at 17p11.2. Features include facial dysmorphism, moderate to mild cognitive impairment and behavioural abnormalities including autism spectrum disorders.

Case presentation: We describe a patient from Sri Lanka that was referred for genetic assessment at 4 years of age due to subtle facial dysmorphism and expressive language impairment. She was diagnosed with Potocki-Lupski syndrome through multiplex ligation probe amplification. She carried two duplications; one in 17p11.2 consistent with Potocki-Lupski, and one in Xq including the region for X-linked intellectual disability.

Conclusion: Despite the absence of expected behavioural symptoms, many features of this patient are in accordance with Potocki-Lupski syndrome. This is the first diagnosed patient in Sri Lanka.

No MeSH data available.


Related in: MedlinePlus