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Klin Padiatr 2012; 224(07): 452-454
DOI: 10.1055/s-0032-1329947
Case Report
© Georg Thieme Verlag KG Stuttgart · New York

HDR Syndrome – A Follow-up Genotype-Phenotype Analysis of a de novo Missense Thr272Ile Mutation in Exon 4 of GATA3

HDR-Syndrom – Langzeitverlauf einer Genotyp-Phänotyp-Analyse einer de novo Missense Thr272Ile-Mutation in Exon 4 von Gata3
T. S. Gomes
1   Department of Pediatrics and Neonatology, Faculty of Medicine, University Children’s Hospital of the Saarland, Homburg/Saar, Germany
,
L. Gortner
1   Department of Pediatrics and Neonatology, Faculty of Medicine, University Children’s Hospital of the Saarland, Homburg/Saar, Germany
,
G. Dockter
1   Department of Pediatrics and Neonatology, Faculty of Medicine, University Children’s Hospital of the Saarland, Homburg/Saar, Germany
,
D. Leitner
1   Department of Pediatrics and Neonatology, Faculty of Medicine, University Children’s Hospital of the Saarland, Homburg/Saar, Germany
,
R. V. Thakker
2   Nuffield Department of Clinical Medicine, Academic Endocrine Unit, University of Oxford, Oxford, United Kingdom
,
T. Rohrer
1   Department of Pediatrics and Neonatology, Faculty of Medicine, University Children’s Hospital of the Saarland, Homburg/Saar, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
30 November 2012 (online)

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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 me­mory 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. ·

Zusammenfassung

Das HDR-Syndrom Hypoparathyroidismus, sensorineuraler Hörverlust und renale Dysplasie (MIM 146255) ist eine seltene, autosomal-dominant vererbte Erkrankung, die durch Mutationen im GATA3-Gen hervorgerufen wird, ein Zinkfinger-Transkriptionsfaktor, der in der vertebralen embryonalen Entwicklung eine Rolle spielt.

Wir berichten in dieser klinischen Fallbeschrei­bung über die Langzeitbetreuung eines Patien­ten mit HDR-Syndrom und einer definitiven GATA3-Mutation. Das HDR-Syndrom bei einem anderthalbjährigen Jungen mit einer de novo-heterozygoten Missense-Mutation (c.815C→T), Thr272Ile, im Exon 4 des GATA3-Gens wurde klinisch diagnostiziert. Bei beiden Elternteilen verlief die Thr272Ile-Diagnostik negativ.

Der Patient hatte bei Diagnosestellung im Alter von 17 Monaten ein Körpergewicht von 10,7 kg, eine Körperlänge von 87 cm und einen Kopfumfang von 47,5 cm. Im Alter von 7 Jahren liegt das Wachstum im Normbereich, eine bilaterale Schwerhörigkeit (dB: 60) wurde mit Hörgeräten korrigiert. Die kognitive Entwicklung (auditiv-sensorisches Gedächtnis und Sprachvermögen) lag bei Testreihen im unteren Normbereich.

Zusammenfassend lässt sich bei einem Patienten mit HDR-Syndrom im Alter von 7 Jahren ein insgesamt leicht beeinträchtigter klinischer Verlauf feststellen. Dieser Bericht erweitert das bekann­­te Datenmaterial über Genotyp-Phenotyp-Analysen beim HDR-Syndrom.

Key words

HDR syndrome - GATA3 - Thr272Ile - genotype - phenotype

Schlüsselwörter

HDR-Syndrom - GATA3 - Thr272Ile - Genotyp - Phenotyp
 

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