title: HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3.
abstract: Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome (MIM 146255) is a rare autosomal dominant disorder caused by mutations in the gene encoding GATA3, a dual zinc-finger transcription factor involved in vertebrate embryonic development. In this clinical case study we report on a follow-up of a phenotype associated with a GATA3 mutation. HDR syndrome was clinically diagnosed at age of 1.5 years in a boy with a de novo heterozygous missense (c.815C→T) mutation, Thr272Ile, in exon 4 of the GATA3 gene. Both parents were negative for Thr272Ile.At age of 17 months, the patient had a weight of 10.7, a body length of 78 cm, and a head circumference of 47.5 cm. By the age of 7 years, growth is age-appropriate, severe bilateral hearing loss (dB 60) was corrected by hearing aids. However, cognitive development (auditory sensory me-mory and language abilities) is at the lower ends of the test scores.In conclusion, a mildly impaired clinical course was achieved by the age of 7 years in a patient with HDR syndrome; this report adds to the body of data on genotype-phenotype analysis in HDR syndrome. ·
authors.affiliation: Department of Pediatrics and Neonatology, University Children's Hospital of the Saarland, Homburg/Saar, Germany. thushari.gomes@uks.eu
authors.forename: T S
authors.initials: TS
authors.lastname: Gomes
authors.forename: L
authors.initials: L
authors.lastname: Gortner
authors.forename: G
authors.initials: G
authors.lastname: Dockter
authors.forename: D
authors.initials: D
authors.lastname: Leitner
authors.forename: R V
authors.initials: RV
authors.lastname: Thakker
authors.forename: T
authors.initials: T
authors.lastname: Rohrer
mesh_terms: D002648:Child; D002675:Child, Preschool; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005091:Exons; D005500:Follow-Up Studies; D050990:GATA3 Transcription Factor / Q000235:genetics*; D006580:Genetic Carrier Screening; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D007223:Infant; D007532:Isoleucine / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009401:Nephrosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D013912:Threonine / Q000235:genetics*
chemical_list: D050990:GATA3 Transcription Factor; D007532:Isoleucine; D013912:Threonine