Potocki-Lupski syndrome

A developmental disorder characterized by HYPOTONIA; FAILURE TO THRIVE; INTELLECTUAL DISABILITY, pervasive developmental disorders, and congenital anomalies. All reported cases have occurred sporadically without bias in the parental origin of rearrangements. Most duplications are 3.7 Mb in size and only identifiable by array COMPARATIVE GENOMIC HYBRIDIZATION (CGH) analysis. Approximately 60% of PTLS patients harbor a microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.7-Mb microdeletion SMITH-MAGENIS SYNDROME. OMIM: 610883

Also Known As:

Networked: 11 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Smith-Magenis Syndrome
2.	Scoliosis
3.	Intellectual Disability (Idiocy)
4.	Malignant Hyperthermia

Experts

1.	Chen, Li: 2 articles (09/2017 - 01/2016)
2.	Bao, Jie: 1 article (01/2021)
3.	Jun, In-Jung: 1 article (01/2021)
4.	Kim, Kye-Min: 1 article (01/2021)
5.	Kim, Songhyun: 1 article (01/2021)
6.	Li, Junfeng: 1 article (01/2021)
7.	Lim, Yunhee: 1 article (01/2021)
8.	Yoo, Byunghoon: 1 article (01/2021)
9.	Zhang, Di: 1 article (01/2021)
10.	Zhou, Shuzhen: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Potocki-Lupski syndrome:

1.	Tretinoin (Retinoic Acid)FDA LinkGeneric 09/01/2017 - "Retinoic acid induced 1 ( RAI1 ) encodes a dosage-sensitive gene that when haploinsufficient results in Smith-Magenis syndrome (SMS) and when overexpressed results in Potocki-Lupski syndrome (PTLS). " 01/08/2016 - "RAI1 (retinoic acid induced-1) is a dosage-sensitive gene that causes Smith-Magenis syndrome (SMS) when mutated or deleted and Potocki-Lupski Syndrome (PTLS) when duplicated, with psychiatric features commonly observed in both syndromes. "
2.	Antipsychotic Agents (Antipsychotics)IBA 07/01/2019 - "Stimulant and Antipsychotic Use for Symptom Management of a Patient With Potocki Lupski Syndrome: Case Report."
3.	Growth Hormone (Somatotropin)IBA 01/01/2020 - "Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS."
4.	DNA (Deoxyribonucleic Acid)IBA 10/01/1992 - "Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus."
5.	ChromatinIBA 02/15/2012 - "These results indicate that the transcriptional co-regulator SPBP and its homologue RAI1 implicated in Smith-Magenis syndrome and Potocki-Lupski syndrome both belong to the expanding family of chromatin-binding proteins containing several domains involved in specific chromatin interactions."
6.	Carrier Proteins (Binding Protein)IBA 02/15/2012 - "These results indicate that the transcriptional co-regulator SPBP and its homologue RAI1 implicated in Smith-Magenis syndrome and Potocki-Lupski syndrome both belong to the expanding family of chromatin-binding proteins containing several domains involved in specific chromatin interactions."
7.	dichlorobis(azomycin)platinum IIIBA 11/01/2020 - "We report a case in which NIPT detected a duplication involving the 17p11.2-17p12 region with possible Potocki-Lupski syndrome in the fetus. "

Therapies and Procedures

1.	Anesthesia 01/01/2021 - "Anesthesia in a Patient with Potocki-Lupski Syndrome." 11/01/2016 - "Anesthesia in Potocki-Lupski syndrome." 01/01/2021 - "Potocki -Lupski syndrome is an uncommon disorder caused by a micro-duplication in chromosome 17p11.2. Variable clinical manifestations bring troubles to the general and neuraxial anesthesia, including mental retardation, facial dysmorphisms, structural cardiovascular anomalies, scoliosis, and malignant hyperthermia. "
2.	Ligation 09/29/2015 - "She was diagnosed with Potocki-Lupski syndrome through multiplex ligation probe amplification. "
3.	Cesarean Section (Caesarean Section) 01/01/2021 - "Here we present a 23-year-old Chinese parturient with Potocki -Lupski syndrome who underwent elective cesarean section under spinal anesthesia. " 01/01/2021 - "Case report: Spinal anesthesia for cesarean section in a parturient with Potocki-Lupski syndrome."
4.	Spinal Anesthesia 01/01/2021 - "To date, the case may be the first reported spinal anesthesia for the parturient with Potocki -Lupski syndrome. " 01/01/2021 - "Here we present a 23-year-old Chinese parturient with Potocki -Lupski syndrome who underwent elective cesarean section under spinal anesthesia. " 01/01/2021 - "Case report: Spinal anesthesia for cesarean section in a parturient with Potocki-Lupski syndrome."