Genomic coordinate (human 10:8,045,333 GATA3) & (mouse 2:9,861,889 Gata3).
Cytoband (human 10p14 GATA3) & (mouse 2qA1 Gata3).
Here I present: “Hypoparathyroidism: Deafness, Renal-dysplasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (GATA3) icd10=Q87.8
Hypoparathyroidism: Deafness, Renal-dysplasia.
Hypoparathyroidism: Deafness, Renal-dysplasia (HDR) syndrome, is
a genetic disorder caused by mutations in the GATA3 gene, leading to a classic triad of low parathyroid hormone (H), sensorineural deafness (D), and kidney problems (R), with varying severity in each component and potential for other features like developmental delays or heart issues.
This syndrome is inherited in an autosomal dominant pattern, affecting the development of parathyroid glands, inner ear, and kidneys, and often requires lifelong management for calcium levels, hearing, and kidney function.
Key Features & Causes.
Genetic Basis: Primarily due to mutations in the GATA3 gene, a transcription factor crucial for embryonic development of these organs.
Hypoparathyroidism (H): Low PTH leads to low calcium (hypocalcemia), causing muscle cramps, spasms, fatigue, or seizures, though it can be asymptomatic.
Sensorineural Deafness (D): Usually bilateral, starting early in life, affecting higher frequencies, and can range from moderate to severe.
Renal Dysplasia (R): Kidney abnormalities like hypoplasia, cysts, or agenesis, potentially leading to renal failure.
HDR syndrome is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) or Renal disease (R). Variable clinical features include: hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability.
There is evidence hypoparathyroidism: deafness, renal-dysplasia (HDR) syndrome is caused by mutation the GATA-binding protein (GATA3) gene encoded on genomic coordinate 10:8,045,333 and cytoband 10p14 in humans.
GATA is an acronym for GATA–binding protein. These are a family of zinc-finger transcription factors that recognize and bind to the specific DNA consensus sequence region (A/T)–G-A-T-A–(A/G) in the promoters and enhancers of target genes.
