Abstract
Barakat syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal anomalies and is caused by mutations in GATA3 gene. SLC34A3 is the cause gene of hypophosphatemic rickets with hypercalciuria, and heterozygous carriers may have milder clinical symptoms. The aim of this study was to identify the underlying genetic cause of a patient who initially presented with renal failure, hypercalciuria, kidney stone, and bilateral sensorineural deafness. A 6-year-old boy with complex clinical presentations was investigated. Comprehensive medical evaluations were performed including auditory function tests, endocrine function tests, metabolic studies, and imaging examinations. Molecular diagnoses were analyzed by trio whole-exome sequencing. One novel de novo deleterious variant (c. 324del) of the GATA3 gene was identified in the patient. The patient can be diagnosed with Barakat syndrome. In addition, one novel variant (c. 589A>G) of the SLC34A3 gene was detected, which was inherited from the father. This heterozygous variant can explain the hypercalciuria and kidney stone that occurred in both the patient and his father. This study provides a special case which is phenoty...Continue Reading
References
Jul 1, 1977·The Journal of Pediatrics·A Y BarakatP A Jose
Jun 1, 1981·The Journal of Pediatrics·G Nikiforuk, D Fraser
Feb 7, 1998·American Journal of Medical Genetics·T HasegawaY Fukushima
Aug 10, 2000·Nature·H Van EschK Devriendt
Apr 5, 2002·The Journal of Clinical Endocrinology and Metabolism·Berenice Y ReedCharles Y C Pak
Dec 2, 2005·Development·David GroteMaxime Bouchard
Jan 11, 2007·Human Molecular Genetics·Asif AliRajesh V Thakker
May 1, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Michael J StechmanRajesh V Thakker
Feb 10, 2009·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Alice KellyIvete Pomarico Ribeiro de Souza
Jan 16, 2010·Orphanet Journal of Rare Diseases·Natalia Mejia-GaviriaFernando Santos
May 21, 2010·The Journal of Clinical Investigation·Irina V GrigorievaRajesh V Thakker
Oct 26, 2010·Immunological Reviews·Tomonori HosoyaJames D Engel
Nov 11, 2011·Acta Odontologica Scandinavica·Hilde NordgardenTore G Abrahamsen
Mar 13, 2012·American Journal of Medical Genetics. Part a·Daniela MelisGeneroso Andria
Oct 12, 2012·European Journal of Pediatrics·Alexis ChenouardGwenaelle Roussey
Mar 14, 2014·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Wade Wei-De ChienCarmen Brewer
Apr 5, 2014·Journal of the American Society of Nephrology : JASN·Debayan DasguptaClemens Bergwitz
Aug 14, 2015·The Journal of International Medical Research·Liu ChenZiwen Liang
Sep 20, 2015·Clinical Endocrinology·Ja Hye KimHan-Wook Yoo
Jul 9, 2016·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Hendrica BelgeNathalie Demoulin
Apr 18, 2018·American Journal of Medical Genetics. Part a·Amin J BarakatOwen M Rennert
May 29, 2018·Journal of Clinical Research in Pediatric Endocrinology·Shirin Hasani-RanjbarBahareh Yarjoo
Jul 5, 2018·Frontiers in Physiology·Jane HejlesenDorte Haubek
Feb 25, 2019·Urolithiasis·Ria SchönauerJan Halbritter
May 10, 2019·The Journal of Physiology·Tanaya BardhanMatthew C Holley
May 24, 2019·Human Reproduction·Arvand AkbariMehdi Totonchi
Sep 9, 2019·Hormone Research in Pædiatrics