A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
D RichterA Stavljenić-Rukavina

Abstract

Hearing loss in patients with X-linked agammaglobulinemia is often attributed to recurrent infections. However, recent genetic studies suggest a different etiology in some patients. We present three unrelated patients, 6, 9, and 14 years of age, with large deletions of the terminal portion of the Bruton tyrosine kinase (Btk) gene extending 4.2-19 kb beyond the 3' end of the gene. The DNA immediately downstream of the 3' end of Btk contains the deafness-dystonia protein gene (DDP). Mutations in this gene have recently been shown to underlie the Mohr-Tranebjaerg syndrome, which is characterized by sensorineural deafness, dystonia, and mental deficiency. Besides the immunodeficiency, our patients exhibited progressive sensorineural deafness. The clue to an associated hearing problem was delayed development of speech in one patient and post-lingual deafness noticed between the age of 3-4 years in the other two. These patients have not yet exhibited significant associated neurologic deficits.

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Citations

Sep 14, 2007·Journal of Clinical Immunology·Anna SediváHans D Ochs
Nov 14, 2007·Neuromolecular Medicine·José Rafael BlesaFrancisco Coria
Jul 22, 2008·The Journal of Pediatrics·Marco BerlucchiAlessandro Plebani
Jul 15, 2011·Journal of Human Genetics·Takashi AraiTsutomu Oh-ishi
Jun 9, 2006·The New England Journal of Medicine·Ephraim P HochbergRobert P Hasserjian
Jan 27, 2011·Audiology & Neuro-otology·Anthony T Cacace, Joaquim M B Pinheiro
Feb 26, 2016·Indian Journal of Pediatrics·Deepti SuriSurjit Singh
Oct 16, 2007·International Journal of Pediatric Otorhinolaryngology·James T BrookesRichard J H Smith
Jan 22, 2005·Immunological Reviews·Mary Ellen ConleySheila A Shurtleff
Nov 17, 2007·Clinical Genetics·M B PetersenP J Willems
Apr 7, 2016·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·Marcus ShakerAnusha Vadlamudi
May 2, 2007·The Laryngoscope·Fayez BahmadLisbth Tranebjaerg

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