Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation

被引：27

作者：

Battini, Roberta

Chilosi, Anna

Mei, Davide

Casarano, Manuela

Alessandri, M. Grazia

Leuzzi, Vincenzo

Ferretti, Giovanni

Tosetti, Michela

Bianchi, M. Cristina

Cioni, Giovanni

机构：

[1] IRCCS Stella Mris, Dept Dev Neurosci, I-56018 Pisa, Italy

[2] Univ Pisa, Div Child Neurol & Psychiat, I-56100 Pisa, Italy

[3] Univ Roma La Sapienza, Dept Child Neurol & Psychiat, Rome, Italy

[4] Santa Chiara Hosp, Unit Neuroradiol, Pisa, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 15期

关键词：

X-linked mental retardation (XLMR); creatine transporter (CT1) deficiency; developmental verbal apraxia; SLC6A8 gene mutation;

D O I：

10.1002/ajmg.a.31827

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 9.5-year-old Italian boy affected by creatine transporter deficit (CT1), due to a de novo mutation in SLC6A8 gene. The patient was investigated by means of a comprehensive neuropsychological protocol and presented with an unusual alteration of speech and expressive-language function, associated with mental retardation, that differed from CT1 patients described to date. In particular, he exhibited a developmental apraxia of speech (DAS) with motor planning and execution deficit, while receptive language was consistent with his mental age. (c) 2007 Wiley-Liss, Inc.

引用

页码：1771 / 1774

页数：4

共 24 条

[1] HPLC assay for guanidinoacetate methyltransferase [J].

Alessandri, MG ;

Celati, L ;

Battini, R ;

Baldinotti, F ;

Item, C ;

Leuzzi, V ;

Cioni, G .

ANALYTICAL BIOCHEMISTRY, 2004, 331 (01) :189-191

[2]

[Anonymous], 1989, DEV TEST VISUAL MOTO

[3]

AXIA G, 1995, TPL TEST PRIMO LINGU

[4] Creatine depletion in a new case with AGAT deficiency:: clinical and genetic study in a large pedigree [J].

Battini, R ;

Leuzzi, V ;

Carducci, C ;

Tosetti, M ;

Bianchi, MC ;

Item, CB ;

Stöckler-Ipsiroglu, S ;

Cioni, G .

MOLECULAR GENETICS AND METABOLISM, 2002, 77 (04) :326-331

[5] Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn:: Early treatment can prevent phenotypic expression of the disease [J].

Battini, Roberta ;

Alessandri, Grazia ;

Leuzzi, Vincenzo ;

Moro, Francesca ;

Tosetti, Michela ;

Bianchi, Maria C. ;

Cioni, Giovanni .

JOURNAL OF PEDIATRICS, 2006, 148 (06) :828-830

[6] X-linked creatine deficiency syndrome:: A novel mutation in creatine transporter gene SLC6A8 [J].

Bizzi, A ;

Bugiani, M ;

Salomons, GS ;

Hunneman, DH ;

Moroni, I ;

Estienne, M ;

Danesi, U ;

Jakobs, C ;

Uziel, G .

ANNALS OF NEUROLOGY, 2002, 52 (02) :227-231

[7]

Caselli MC, 1995, PRIMO VOCABOLARIO BA

[8]

Chilosi A. M., 1995, TCGB TEST COMPRENSIO

[9] X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology [J].

Clark, Amy J. ;

Rosenberg, Efraim H. ;

Almeida, Ligia S. ;

Wood, Tim C. ;

Jakobs, Cornelis ;

Stevenson, Roger E. ;

Schwartz, Charles E. ;

Salomons, Gajja S. .

HUMAN GENETICS, 2006, 119 (06) :604-610

[10]

Dunn L. M., 1997, PPVT-III: Peabody picture vocabulary test

← 1 2 3 →