The PURA Syndrome Biobank – An International Resource

Rare genetic disease puzzle. Source: Arek Socha, no changes made, CC0 Creative Commons

The PURA gene is located at chromosome 5, band q31 [1]. It encodes the Pur alpha (PurA) protein which is a sequence-specific single-stranded-DNA-binding protein that is known to be particularly important for brain development. For example, lack of PurA alters postnatal brain development and causes megalencephaly [2]. Inherited perturbations of the PURA gene have been implicated in neurodegenerative disorders know as the PURA-related disorders. PURA syndrome, a specific type, was first described in 2014, is caused by a heterozygous pathogenic sequence variant in PURA, and a 5q31.3 deletion [3, 4]. As of February 2018, there were at least 208 individuals diagnosed with the condition globally.

The PURA Syndrome Biobank is a new initiative of the PURA Syndrome Foundation that will collect samples from patients with PURA syndrome from around the world. Blood, urine, cord blood, cerebrospinal fluid, biopsy tissues and cultured cells will be collected. This may occur during routine procedures that a PURA child has undergone, such as during a diagnostic test or during planned blood tests, or may be collected as a patient is undergoing previously planned surgery. The samples will be available for scientists to carry out research studies in order to gain further knowledge about PURA syndrome which could help guide future therapies [5].

The Biobank will be connected to the PURA Syndrome Global Patient Registry linking clinical information to the samples.  The multisite biobank locations will be in Philadelphia USA, Munich Germany and Southampton UK.

 

Sources

  1. Ma ZW, Pejovic T, Najfeld V, Ward DC, Johnson EM. Localization of PURA, the gene encoding the sequence-specific single-stranded-DNA-binding protein Pur alpha, to chromosome band 5q31. Cytogenet Cell Genet. 1995;71(1):64-7. PubMed PMID: 7606931.
  2. Hokkanen S, Feldmann HM, Ding H, Jung CK, Bojarski L, Renner-Müller I, Schüller U, Kretzschmar H, Wolf E, Herms J. Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. Hum Mol Genet. 2012;21(3):473-84. doi: 10.1093/hmg/ddr476. PubMed PMID: 22010047.
  3. Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD study, Magee AC, Turnpenny PD, Baralle D. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. J Med Genet. 2014;51(12):806-13. doi:10.1136/jmedgenet-2014-102798. PubMed PMID: 25342064.
  4. Lalani SR, et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. PubMed PMID:25439098.
  5. https://www.purasyndrome.org/rdd2018
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