PURA syndrome
| PURA syndrome | |
|---|---|
| Other names | PURA-related neurodevelopmental disorder |
 | |
| Specialty | Medical genetics |
| Symptoms | Developmental, speech and walking delays with epilepsy and other associated anomalies |
| Causes | Mutation in the PURA gene, located on Chromosome 5 at 5q31. |
| Prevention | None |
| Prognosis | Medium (with treatment) |
| Frequency | very rare, with roughly 500 reported in medical literature worldwide |
| Deaths | - |
PURA syndrome, also known as PURA-related neurodevelopmental disorder, is a rare novel genetic disorder which is characterized by developmental and speech delay, neo-natal hypotonia, failure to thrive, excessive sleepiness, epilepsy, and other anomalies.[1]
Description[edit]
Patients (usually children, but including adults) with this disorder usually show:[2][3][4]
- Widespread developmental delay
- Speech delay
- Balance and walking difficulties (may learn to walk at a later-than-average age or may never be ambulatory)
- Hypotonia
- Feeding difficulties (dysphagia is one of the causes)
- Epilepsy
- Excessive daytime sleepiness
- Chronic hypothermia
- Apnea
- Hypoventilation
- Kyphosis and Scoliosis
- Visual disturbances including Strabismus and Nystagmus
Breathing problems often resolve after the age of one.
Causes[edit]
This disorder is caused by mutations in the PURA gene, in chromosome 5.[5] This gene is essential for the formation of pur-alpha, a protein which controls the activity of various genes and is vital for the replication of genes. It is also important for the normal development of the brain by directing the growth and division of neurons, the formation and maturation of myelin, which is a substance that protects nerves and promotes efficient nerve impulse transmission.[6] These mutations are often spontaneous (de novo), which means that they may appear in a baby whose family history is clear of the mutation. It has been shown that the mutations would be inherited in an autosomal dominant fashion.[7]
Etiology[edit]
This condition was first discovered in 2014 by Lalani et al. when they described 11 individuals with neonatal-onset hypotonia, encephalopathy which was often (but not always) associated with epilepsy, and severe developmental delay.[8]
Epidemiology[edit]
According to OMIM, around 62 cases have been described in medical literature worldwide, making PURA syndrome a very rare disorder.[9] It is estimated that this syndrome is the cause of 1% of all cases of developmental delay.
As would be expected with a disease this rare, patients who were undiagnosed (or misdiagnosed with other disorders, such as the similar-appearing Angelmans Syndrome) are being discovered. As of 2023, PURA Syndrome Foundation has recognized over 500 patients worldwide.[10]
References[edit]
- ^ "PURA syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-06-01.
- ^ S.L.U, 2022 Viguera Editores. "PURA syndrome in a child with severe developmental delay: a challenging diagnosis : Neurología.com". www.neurologia.com. Retrieved 2022-06-01.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; Essen, Ton J. van; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph (2018-02-01). "PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature". Journal of Medical Genetics. 55 (2): 104–113. doi:10.1136/jmedgenet-2017-104946. ISSN 0022-2593. PMC 5800346. PMID 29097605.
- ^ Trau, Steven; Pizoli, Carolyn (2018-04-10). "PURA Syndrome and Myotonia: A Case Report and Review of the Literature (P3.336)". Neurology. 90 (15 Supplement). ISSN 0028-3878.
- ^ Fukuda, Yuya; Kudo, Yoshimasa; Saito, Makoto; Kaname, Tadashi; Oota, Tohru; Shoji, Reikichi (2022-04-19). "Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient". Human Genome Variation. 9 (1): 11. doi:10.1038/s41439-022-00189-7. ISSN 2054-345X. PMC 9019084. PMID 35440576.
- ^ "PURA gene: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-06-01.
- ^ Reijnders, Margot RF; Leventer, Richard J.; Lee, Bo Hoon; Baralle, Diana; Selber, Paulo; Paciorkowski, Alex R.; Hunt, David (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "PURA-Related Neurodevelopmental Disorders", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 28448108, retrieved 2022-06-01
- ^ Lalani, Seema R.; Zhang, Jing; Schaaf, Christian P.; Brown, Chester W.; Magoulas, Pilar; Tsai, Anne Chun-Hui; El-Gharbawy, Areeg; Wierenga, Klaas J.; Bartholomew, Dennis; Fong, Chin-To; Barbaro-Dieber, Tina (2014-11-06). "Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome". American Journal of Human Genetics. 95 (5): 579–583. doi:10.1016/j.ajhg.2014.09.014. ISSN 1537-6605. PMC 4225583. PMID 25439098.
- ^ Lalani, Seema R.; Zhang, Jing; Schaaf, Christian P.; Brown, Chester W.; Magoulas, Pilar; Tsai, Anne Chun-Hui; El-Gharbawy, Areeg; Wierenga, Klaas J.; Bartholomew, Dennis; Fong, Chin-To; Barbaro-Dieber, Tina (2014-11-06). "Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome". American Journal of Human Genetics. 95 (5): 579–583. doi:10.1016/j.ajhg.2014.09.014. ISSN 1537-6605. PMC 4225583. PMID 25439098.
- ^ "PURA 101 | PURA Syndrome Foundation". purasyndrome.org. Retrieved 2023-02-28.