A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy

Teresa Giovanniello; Dianella Claps; Carla Carducci; Claudia Carducci; Nenad Blau; Federico Vigevano; Italo Antonozzi; Vincenzo Leuzzi

doi:10.1177/0883073811420717

A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy

Teresa Giovanniello, Dianella Claps, Carla Carducci, Claudia Carducci, Nenad Blau, Federico Vigevano, Italo Antonozzi, Vincenzo Leuzzi

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Abstract

We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor development, paroxysmal dystonic postures and movements of limbs, hypokinesia) due to tyrosine hydroxylase deficiency. High blood prolactin and low homovanillic acid in cerebrospinal fluid suggested the diagnosis. Genetic analysis revealed 3 new missense mutations on tyrosine hydroxylase gene: [c.752C>T(p.P251L) and c.887G>A(p.R296Q] harbored by the father and c.836G>T (p.C279F) of maternal origin. Bioinformatics tools have been helpful in predicting the pathogenic role of p.P251L and p.C279F substitutions, while a weak pathogenic effect was ascribed to p.R296Q.

Original language	English
Pages (from-to)	523-525
Number of pages	3
Journal	Journal of Child Neurology
Volume	27
Issue number	4
DOIs	https://doi.org/10.1177/0883073811420717
Publication status	Published - Apr 2012

Keywords

autosomal recessive dopa-responsive dystonia
biogenic amine disorders
early-onset encephalopathy
tyrosine hydroxylase deficiency

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health

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title = "A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy",

abstract = "We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor development, paroxysmal dystonic postures and movements of limbs, hypokinesia) due to tyrosine hydroxylase deficiency. High blood prolactin and low homovanillic acid in cerebrospinal fluid suggested the diagnosis. Genetic analysis revealed 3 new missense mutations on tyrosine hydroxylase gene: [c.752C>T(p.P251L) and c.887G>A(p.R296Q] harbored by the father and c.836G>T (p.C279F) of maternal origin. Bioinformatics tools have been helpful in predicting the pathogenic role of p.P251L and p.C279F substitutions, while a weak pathogenic effect was ascribed to p.R296Q.",

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author = "Teresa Giovanniello and Dianella Claps and Carla Carducci and Claudia Carducci and Nenad Blau and Federico Vigevano and Italo Antonozzi and Vincenzo Leuzzi",

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AU - Giovanniello, Teresa

AU - Claps, Dianella

AU - Carducci, Carla

AU - Carducci, Claudia

AU - Blau, Nenad

AU - Vigevano, Federico

AU - Antonozzi, Italo

AU - Leuzzi, Vincenzo

PY - 2012/4

Y1 - 2012/4

N2 - We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor development, paroxysmal dystonic postures and movements of limbs, hypokinesia) due to tyrosine hydroxylase deficiency. High blood prolactin and low homovanillic acid in cerebrospinal fluid suggested the diagnosis. Genetic analysis revealed 3 new missense mutations on tyrosine hydroxylase gene: [c.752C>T(p.P251L) and c.887G>A(p.R296Q] harbored by the father and c.836G>T (p.C279F) of maternal origin. Bioinformatics tools have been helpful in predicting the pathogenic role of p.P251L and p.C279F substitutions, while a weak pathogenic effect was ascribed to p.R296Q.

AB - We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor development, paroxysmal dystonic postures and movements of limbs, hypokinesia) due to tyrosine hydroxylase deficiency. High blood prolactin and low homovanillic acid in cerebrospinal fluid suggested the diagnosis. Genetic analysis revealed 3 new missense mutations on tyrosine hydroxylase gene: [c.752C>T(p.P251L) and c.887G>A(p.R296Q] harbored by the father and c.836G>T (p.C279F) of maternal origin. Bioinformatics tools have been helpful in predicting the pathogenic role of p.P251L and p.C279F substitutions, while a weak pathogenic effect was ascribed to p.R296Q.

KW - autosomal recessive dopa-responsive dystonia

KW - biogenic amine disorders

KW - early-onset encephalopathy

KW - tyrosine hydroxylase deficiency

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A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy

Abstract

Keywords

ASJC Scopus subject areas

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