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Case Reports
. 2024 May;194(5):e63526.
doi: 10.1002/ajmg.a.63526. Epub 2024 Jan 8.

Novel CHRNA3 variants identified in a patient with bladder dysfunction, dysautonomia, and gastrointestinal dysmotility

Asha Anand  1 , Vivek Shenoy  2   3 , Richard W Sutherland  2   4 , Caroline Platt  5   6 , Clara C Hildebrandt  2   3
Affiliations
Case Reports

Novel CHRNA3 variants identified in a patient with bladder dysfunction, dysautonomia, and gastrointestinal dysmotility

Asha Anand et al. Am J Med Genet A. 2024 May.

Erratum in

Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) are estimated to be responsible for 20%-50% of congenital anomalies and are also a leading etiology of early-onset renal disease. Primary CAKUT are caused by genetic factors that impair proper in-utero genitourinary tract development and secondary CAKUT result from the influence of environmental factors. The CHRNA3 gene, which encodes the Alpha-3 subunit of the nicotinic acetylcholine receptor, is hypothesized to be associated with Megacystis-microcolon-intestinal hyperperistalsis syndrome. More recently, pathogenic variants in CHRNA3 have been identified in individuals with CAKUT as well as individuals with panautonomic failure. Here we present a patient with neurogenic bladder, vesicoureteral reflux, mydriasis, and gastrointestinal dysmotility found to have novel compound heterozygous variants in CHRNA3. These findings support the consideration of CHRNA3 disruption in the differential for CAKUT with dysautonomia and gastrointestinal dysmotility.

Keywords: CAKUT; CHRNA3; dysautonomia; gastrointestinal dysmotility; mydriasis.

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REFERENCES

    1. Albuquerque, E. X., Pereira, E. F., Alkondon, M., & Rogers, S. W. (2009). Mammalian nicotinic acetylcholine receptors: From structure to function. Physiological Reviews, 89, 73–120.
    1. Andrés‐Jensen, L., Jørgensen, F. S., Thorup, J., Flachs, J., Madsen, J. L., Maroun, L. L., Nørgaard, P., Vinicoff, P. G., Olsen, B. H., & Cortes, D. (2016). The outcome of antenatal ultrasound diagnosed anomalies of the kidney and urinary tract in a large Danish birth cohort. Archives of Disease in Childhood, 101(9), 819–824.
    1. Beckel, J. M., Kanai, A., Lee, S. J., De Groat, W. C., & Birder, L. A. (2006). Expression of functional nicotinic acetylcholine receptors in rat urinary bladder epithelial cells. American Journal of Physiology. Renal Physiology, 290(1), F103–F110.
    1. Bondagji, N. S. (2014). Antenatal diagnosis, prevalence and outcome of congenital anomalies of the kidney and urinary tract in Saudi Arabia. Urology Annals, 6(1), 36–40.
    1. Caiulo, V. A., Caiulo, S., Gargasole, C., Chiriacò, G., Latini, G., Cataldi, L., & Mele, G. (2012). Ultrasound mass screening for congenital anomalies of the kidney and urinary tract. Pediatric Nephrology, 27, 949–953.

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