HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3.
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...
| Main Authors: | , , , , , |
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| Format: | Journal article |
| Language: | English |
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2012
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| _version_ | 1826291569911660544 |
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| author | Gomes, T Gortner, L Dockter, G Leitner, D Thakker, R Rohrer, T |
| author_facet | Gomes, T Gortner, L Dockter, G Leitner, D Thakker, R Rohrer, T |
| author_sort | Gomes, T |
| collection | OXFORD |
| description | 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. · |
| first_indexed | 2024-03-07T03:01:22Z |
| format | Journal article |
| id | oxford-uuid:b112f541-f050-41c6-b153-07c91eea3af4 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T03:01:22Z |
| publishDate | 2012 |
| record_format | dspace |
| spelling | oxford-uuid:b112f541-f050-41c6-b153-07c91eea3af42022-03-27T04:01:14ZHDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:b112f541-f050-41c6-b153-07c91eea3af4EnglishSymplectic Elements at Oxford2012Gomes, TGortner, LDockter, GLeitner, DThakker, RRohrer, THypoparathyroidism, 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. · |
| spellingShingle | Gomes, T Gortner, L Dockter, G Leitner, D Thakker, R Rohrer, T HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3. |
| title | HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3. |
| title_full | HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3. |
| title_fullStr | HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3. |
| title_full_unstemmed | HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3. |
| title_short | HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3. |
| title_sort | hdr syndrome a follow up genotype phenotype analysis of a de novo missense thr272ile mutation in exon 4 of gata3 |
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