Background 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. Methods 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. Results 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. Conclusion This study provides a special case which is phenotype-driven dual diagnoses, and the two novel variants can parsimoniously explain the complex clinical presentations of this patient.

Novel heterozygous GATA3 and SLC34A3 variants in a 6‐year‐old boy with Barakat syndrome and hypercalciuria

/pdf/evaluation-of-the-of-alpha2-adrenergic-receptors-stimulation-vl8x85sfcr.pdf

Evaluation of the of alpha2-adrenergic receptors stimulation effect on prolactin secretion, based on the result of the test with clonidine used in the diagnosis of children with short stature

Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.

HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. An autosomal dominant disease caused by heterozygous pathogenic GATA3 variants, the penetrance of each associated condition is variable. Literature reviews have provided some answers, but many questions remain, in particular what the relationship is between genotype and phenotype. The current study examines 28 patients with HDR syndrome combined with an exhaustive review of the literature. Some conditions such as hearing loss are almost always present, while others described as rare initially, do not seem to be so rare after all (genital malformations and basal ganglia calcifications). By modeling pathogenic GATA3 variants found in HDR syndrome, we found that missense variations appear to always be located in the same area (close to the two Zinc Finger domain). We describe new pathogenic GATA3 variants, of which some seem to always be associated with certain conditions. Many audiograms were studied to establish a typical audiometric profile associated with a phenotype in HDR. As mentioned in the literature, hearing function should always be assessed as early as possible and follow up of patients with HDR syndrome should include monitoring of parathyroid function and vesicoureteral reflux in order to prevent complications. 

<scp>HDR</scp> syndrome: Large cohort and systematic review

Barakat Syndrome (MIM#146255) is a rare autosomal dominant disease caused by GATA3 gene mutation and manifested by hypoparathyroidism (H), sensorineural deafness (D), and renal disease (R). HDR syndrome characterized by high clinical variability and prognosis. The exact prevalence of this disease is unknown, 180 cases are reported in the literature. Two clinical cases are presented. De novo heterozygous mutation in the GATA3 gene was detected in both patients. Our observations demonstrate variability of clinical phenotypes and poor prognosis in patients with Barakat Syndrome. The syndrome should be suspected in cases of early high-grade deafness and kidney disease presentation for the purpose of early diagnosis and appropriate therapy including the prevention of CKD progression.

Barakat syndrome: clinical polymorphism of the disease

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Novel heterozygous GATA3 and SLC34A3 variants in a 6‐year‐old boy with Barakat syndrome and hypercalciuria