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• Barakat Syndrome
  Amin J Barakat
  Published on: 10 March 2021

• Published on: 10 March 2021

  Barakat Syndrome

  • Amin J Barakat, Clinical Professor of Pediatrics/Nephrology
  • Other Contributors:
    • Washington, D.C.

  Dear Editor,

  I read with interest the article by Muroya et al. [1].

  The authors mention that the inherited condition of hypoparathyroidism, sensorineural deafness and renal dysplasia has been recognized as a distinct clinical entity since the report by Bilous et al. in 1992. In fact, this syndrome was described for the first time in 1977 by Barakat et al. [2]. The syndrome with presumed autosomal rec...

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  Dear Editor,

  I read with interest the article by Muroya et al. [1].

  The authors mention that the inherited condition of hypoparathyroidism, sensorineural deafness and renal dysplasia has been recognized as a distinct clinical entity since the report by Bilous et al. in 1992. In fact, this syndrome was described for the first time in 1977 by Barakat et al. [2]. The syndrome with presumed autosomal recessive inheritance was later named the “Barakat syndrome” [3-5]. In 1992 Bilous et al. [6] described a phenotypically similar syndrome in one family with autosomal dominant inheritance. The mode of inheritance may not be a fundamental difference, and the disorder in the two families described by Barakat and Bilous may be due to different mutations in the same gene [7]. Inheritance in the family described by Barakat et al. could also be autosomal dominant with reduced penetrance [7]. In 1997 Hasegawa et al. [8] described a Japanese girl with this syndrome and a de novo deletion of 10p13. They suggested the name “HDR syndrome”. Subsequently, a few more patients were reported.

  Other synonyms for Barakat syndrome include “Hypoparathyroidism, sensorineural deafness and renal dysplasia”, “HDR syndrome”, and “Nephrosis, nerve deafness and hypoparathyroidism” [7]. The syndrome should then consist of hypoparathyroidism, sensorineural deafness and renal disease, since various renal abnormalities have been described including nephrotic syndrome, renal dysplasia, hypoplasia and unilateral renal agenesis, vesicoureteral reflux, pelvicalyceal deformity, hydronephrosis, and chronic renal failure.

  First described by Barakat et al. in 1977, Barakat syndrome is a rare condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. The defect is on chromosome 10p15,10p15.1-p14, with haploinsufficiency or mutation of the GATA3 gene being the underlying cause of the syndrome [7,9].

  References

  1. Muroya, K, Hasegawa,T, Ito,Y, Nagai,T. Isotani,H, Iwata,Y, Yamamoto,K, Fujimoto,S, Seishu,S, Fukushima,Y, Hasegawa,Y, Ogata,T. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet 2001;38:374-80.

  2. Barakat, AY, D'Albora, JB, Martin, MM, Jose, PA. Familial nephrosis, nerve deafness, and hypoparathyroidism. J. Pediat 1977; 91: 61- 4.

  3. McKusick V. Mendalian Inheritance in Man, 12th Edition, Volume 2, Baltimore,The Johns Hopkins University Press, l998.

  4. Magnalini SI, et al: Dictionary of Medical Syndromes, 4th edition,Philadelphia, J.B. Lippencott-Raven, 1997, p 73.

  5. Rimoin DL, Connor, JM, Pyeritz RE, Korf BR. Emery and Rimoin’s Principles and Practice of Medical Genetics. Fourth Edition, Volume 2, London, Churchill Livingstone, 2002, p2217.

  6. Bilous, RW, Murty, G, Parkinson, DB, Thakker, RV, Coulthard, MG, Burn, J, Mathias, D, Kendall-Taylor, P. Btief report: Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. New Eng J Med 1992; 327: 1069-74.

  7. Online Mendelian Inheritance in Man, Johns Hopkins University #146255.

  8. Hasegawa,T, Hasegawa, Y, Aso, T.; Koto, S, Nagai, T, Tsuchiya, Y, Kim, K, Ohashi, H, Wakui, K, Fukushima, Y. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet 1997; 73: 416-8.

  9. Van Esch, H, Groenen, P, Nesbit, MA, Schuffenhauer, S, Lichtner, P, Vanderlinden, G, Harding, B, Beetz, R, Bilous, RW, Holdaway, I, Shaw, NJ, Fryns, J.-P, Van de Ven, W, Thakker, RV, Devriendt, K. GATA3 haplo- insufficiency causes human HDR syndrome. Nature 2000; 406: 419-22.

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  Conflict of Interest:
  None declared.

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