Potocki–Lupski syndrome
| Potocki–Lupski syndrome | |
|---|---|
| Other names | 17p11.2 microduplication syndrome ,Trisomy 17p11.2 |
Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a
chromosome 17 (17p11.2).[1] The duplication was first described as a case study in 1996.[2] In 2000, the first study of the disease was released,[3] and in 2007, enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description.[1] PTLS is named for two researchers involved in the latter phases, Drs. Lorraine Potocki and James R. Lupski of Baylor College of Medicine.[1][4]
PTLS was the first predicted
microdeletion or microduplication) where both reciprocal recombinations result in a contiguous gene syndrome.[1] Its reciprocal disease is Smith–Magenis syndrome (SMS), in which the chromosome portion duplicated in PTLS is deleted altogether.[3]
Potocki–Lupski syndrome is considered a rare disease,[5][6] predicted to appear in at least 1 in 20,000 humans.[7]
Symptoms of the syndrome include
autism,[1]
and other disorders unrelated to the listed symptoms.
Presentation
Clinically, PTLS presents as a milder syndrome than SMS, with distinct characteristics, though PTLS can be mistaken for SMS.
After noting that autism is commonly associated with PTLS, researchers at the
brain-to-body mass ratio and an alteration in the expression of several genes in the hippocampus.[8][11]
Molecular genetics
Both Potocki–Lupski and Smith–Magenis syndromes arise through a faulty
In mice of the subfamily
laboratory mice and humans, it has been discovered that RAI1 is likely the gene responsible for these syndromes. For example, in one study, it was shown that mice with 2 copies of the RAI1 gene and 3 copies of each of the other 18 genes in the described translocated region of chromosome 11 appeared and behaved like the control mice with the described region intact.[10][14] In other words, RAI1 is dosage-sensitive. This provides evidence that it is the number of RAI1 copies present that affects the symptoms of PTLS and SMS. It is therefore believed that RAI1 is the critical gene involved in these disorders;[1] however, since no cases of RAI1 duplication alone have been identified, this has not been concluded.[13]
One group has noted that, in a mouse model, the
GJA12.[8]
Diagnosis
The duplication involved in PTLS is usually large enough to be detected through
array comparative genomic hybridization (aCGH) may be used.[16]
Management
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See also
- Chromosome nomenclature
- Low copy repeats
References
- ^ PMID 17357070.
- PMID 8725788.
- ^ S2CID 24400634.
- PMID 19287139.
- National Institute for Health. Retrieved 25 August 2009.
- INSERM. Retrieved 25 August 2009.
- ^ "About Potocki-Lupski syndrome". Houston, Texas: Baylor College of Medicine. 17 July 2009. Archived from the original on 6 June 2011. Retrieved 26 August 2009.
- ^ PMID 18469339.
- S2CID 24233881.
- ^ PMID 17024248.
- ^ PMID 19949547.
- PMID 20188345.
- ^ PMID 16444292.
- PMID 21629438.
- PMID 17357070.
- PMID 25548634.