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The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.

Döneray H, Usui T, Kaya A, Dönmez AS - J Clin Res Pediatr Endocrinol (2015)

Bottom Line: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia.We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation.This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset.

View Article: PubMed Central - PubMed

Affiliation: Atatürk University Faculty of Medicine, Department of Pediatric Endocrinology, Erzurum, Turkey Phone: +90 535 944 43 07 E-mail: hdoneray@hotmail.com.

ABSTRACT
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset.

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Related in: MedlinePlus

Electropherogram showing the heterozygous p.R367X mutation identified in the proband. The mutation was not detected in the mother’s and father’s samples. A black arrow points to the c.1099C>T mutation which results in substitution of a termination signal instead of arginine at residue 367 (p.R367X).
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f1: Electropherogram showing the heterozygous p.R367X mutation identified in the proband. The mutation was not detected in the mother’s and father’s samples. A black arrow points to the c.1099C>T mutation which results in substitution of a termination signal instead of arginine at residue 367 (p.R367X).

Mentions: Sequence analysis of coding and flanking intronic regions of the GATA3 gene was performed. The results showed a nonsense mutation (p. R367X; c.1099C>T). The C>T mutation at nucleotide 1099 in exon 6 of the GATA3 resulted in substitution of a termination signal instead of arginine at codon 367. The patient’s parents showed wild type sequences (Figure 1).


The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.

Döneray H, Usui T, Kaya A, Dönmez AS - J Clin Res Pediatr Endocrinol (2015)

Electropherogram showing the heterozygous p.R367X mutation identified in the proband. The mutation was not detected in the mother’s and father’s samples. A black arrow points to the c.1099C>T mutation which results in substitution of a termination signal instead of arginine at residue 367 (p.R367X).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4563186&req=5

f1: Electropherogram showing the heterozygous p.R367X mutation identified in the proband. The mutation was not detected in the mother’s and father’s samples. A black arrow points to the c.1099C>T mutation which results in substitution of a termination signal instead of arginine at residue 367 (p.R367X).
Mentions: Sequence analysis of coding and flanking intronic regions of the GATA3 gene was performed. The results showed a nonsense mutation (p. R367X; c.1099C>T). The C>T mutation at nucleotide 1099 in exon 6 of the GATA3 resulted in substitution of a termination signal instead of arginine at codon 367. The patient’s parents showed wild type sequences (Figure 1).

Bottom Line: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia.We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation.This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset.

View Article: PubMed Central - PubMed

Affiliation: Atatürk University Faculty of Medicine, Department of Pediatric Endocrinology, Erzurum, Turkey Phone: +90 535 944 43 07 E-mail: hdoneray@hotmail.com.

ABSTRACT
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset.

Show MeSH
Related in: MedlinePlus