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TL;DR
A literature review of 192 diagnosed cases highlights the clinical heterogeneity and common features of the syndrome.
Frontiers in Genetics · 8 authors, 4 centres
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A literature review of 192 diagnosed cases highlights the clinical heterogeneity and common features of the syndrome.
The paper presents a case study of a patient with hypoparathyroidism, sensorineural hearing loss, and other features, who was found to have a novel heterozygous splice site variant (c.1050+2T>C) in the GATA3 gene. In vitro minigene experiments demonstrated that this variant causes aberrant splicing, leading to the production of a truncated GATA3 protein (p.Ile351Alafs*14). The authors also conducted a literature review of 192 molecularly diagnosed HDR syndrome cases, analyzing clinical features and genotype-phenotype correlations. Patients with null or gross deletion variants showed more frequent phenotypes than those with missense mutations. A notable finding was genetic anticipation in 71.88% of the 32 pedigrees studied.