Literature DB >> 15558314

Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.

Konrad Oexle1, Barbara Thamm-Mücke, Thomas Mayer, Sigrid Tinschert.   

Abstract

UNLABELLED: We report a novel C-terminal MECP2 frameshift deletion (1135_1142delCCCGTG CC) in a 19-year-old woman with mental retardation and epilepsy. Preservation of language capabilities, purposeful hand use and sufficient locomotion implied an atypical variant of Rett syndrome (OMIM 312750). Occipito-frontal head circumference was large at birth (36 cm; SDS 1.7) and increased until adulthood (58.5 cm; SDS 2.3).
CONCLUSION: Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes.

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Year:  2004        PMID： 15558314     DOI： 10.1007/s00431-004-1583-x

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  15 in total

1.  Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

Authors:  Linda S Weaving; Sarah L Williamson; Bruce Bennetts; Mark Davis; Carolyn J Ellaway; Helen Leonard; Meow-Keong Thong; Martin Delatycki; Elizabeth M Thompson; Nigel Laing; John Christodoulou
Journal:  Am J Med Genet A       Date:  2003-04-15       Impact factor: 2.802

2.  Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.

Authors:  F Kammoun; N de Roux; O Boespflug-Tanguy; L Vallée; R Seng; M Tardieu; P Landrieu
Journal:  J Med Genet       Date:  2004-06       Impact factor: 6.318

3.  A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

Authors:  C Schanen; U Francke
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

4.  MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.

Authors:  J B Nielsen; K F Henriksen; C Hansen; A Silahtaroglu; M Schwartz; N Tommerup
Journal:  Eur J Hum Genet       Date:  2001-03       Impact factor: 4.246

5.  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Authors:  R E Amir; I B Van den Veyver; M Wan; C Q Tran; U Francke; H Y Zoghbi
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

6.  Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

Authors:  M Wan; S S Lee; X Zhang; I Houwink-Manville; H R Song; R E Amir; S Budden; S Naidu; J L Pereira; I F Lo; H Y Zoghbi; N C Schanen; U Francke
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

7.  Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

Authors:  J P Cheadle; H Gill; N Fleming; J Maynard; A Kerr; H Leonard; M Krawczak; D N Cooper; S Lynch; N Thomas; H Hughes; M Hulten; D Ravine; J R Sampson; A Clarke
Journal:  Hum Mol Genet       Date:  2000-04-12       Impact factor: 6.150

8.  Head circumference reference data: birth to 18 years.

Authors:  A F Roche; D Mukherjee; S M Guo; W M Moore
Journal:  Pediatrics       Date:  1987-05       Impact factor: 7.124

9.  A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

Authors:  Gevork N Mnatzakanian; Hannes Lohi; Iulia Munteanu; Simon E Alfred; Takahiro Yamada; Patrick J M MacLeod; Julie R Jones; Stephen W Scherer; N Carolyn Schanen; Michael J Friez; John B Vincent; Berge A Minassian
Journal:  Nat Genet       Date:  2004-03-21       Impact factor: 38.330

Review 10.  Rett syndrome: the complex nature of a monogenic disease.

Authors:  Alessandra Renieri; Ilaria Meloni; Ilaria Longo; Francesca Ariani; Francesca Mari; Chiara Pescucci; Franca Cambi
Journal:  J Mol Med (Berl)       Date:  2003-05-16       Impact factor: 4.599
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  3 in total

1.  Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome.

Authors:  Michele Zappella; Francesca Mari; Alessandra Renieri
Journal:  Eur J Pediatr       Date:  2005-07-12       Impact factor: 3.183

2.  Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.

Authors:  Ulrike Bernstein; Stephanie Demuth; Oliver Puk; Birgit Eichhorn; Solveig Schulz
Journal:  Mol Syndromol       Date:  2019-07-02

3.  A plasma proteomic approach in Rett syndrome: classical versus preserved speech variant.

Authors:  Alessio Cortelazzo; Roberto Guerranti; Claudio De Felice; Cinzia Signorini; Silvia Leoncini; Alessandra Pecorelli; Claudia Landi; Luca Bini; Barbara Montomoli; Claudia Sticozzi; Lucia Ciccoli; Giuseppe Valacchi; Joussef Hayek
Journal:  Mediators Inflamm       Date:  2013-12-23       Impact factor: 4.711
  3 in total

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