Literature DB >> 31602196

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

Ulrike Bernstein1, Stephanie Demuth2, Oliver Puk3, Birgit Eichhorn2, Solveig Schulz1.   

Abstract

We report 2 cases of girls with MECP2 gene variants who do not have typical clinical features of Rett syndrome except for intellectual disability and seizures. Both patients present with adipositas, macrocephalia, precocious puberty, and seizures. They have prominent eyebrows and a short neck as well as short and plump fingers. Sequencing by NGS revealed a novel variant c.1162_1172del; p.Pro388* in both patients.
Copyright © 2019 by S. Karger AG, Basel.

Entities:  

Keywords:  Atypical Rett syndrome; Frameshift; MECP2 deletion; Premature stop codon; Truncated protein

Year:  2019        PMID： 31602196      PMCID： PMC6738185          DOI： 10.1159/000501183

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  14 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.  MeCP2 suppresses nuclear microRNA processing and dendritic growth by regulating the DGCR8/Drosha complex.

Authors:  Tian-Lin Cheng; Zhizhi Wang; Qiuming Liao; Ying Zhu; Wen-Hao Zhou; Wenqing Xu; Zilong Qiu
Journal:  Dev Cell       Date:  2014-03-10       Impact factor: 12.270

3.  An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.

Authors:  Madison V Epperson; Michael E Haws; Shannon M Standridge; Donald L Gilbert
Journal:  J Child Neurol       Date:  2018-01-25       Impact factor: 1.987

4.  Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Authors:  Vishnu Anand Cuddapah; Rajesh B Pillai; Kiran V Shekar; Jane B Lane; Kathleen J Motil; Steven A Skinner; Daniel Charles Tarquinio; Daniel G Glaze; Gerald McGwin; Walter E Kaufmann; Alan K Percy; Jeffrey L Neul; Michelle L Olsen
Journal:  J Med Genet       Date:  2014-01-07       Impact factor: 6.318

5.  Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.

Authors:  Gaëtan Lesca; Virginie Bernard; Muriel Bozon; Renaud Touraine; Daniel Gérard; Patrick Edery; Alain Calender
Journal:  Eur J Med Genet       Date:  2007-02-20       Impact factor: 2.708

6.  Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

Authors:  Daniela Karall; Edda Haberlandt; Sabine Scholl-Bürgi; Sara Baumgartner; Montserrat Naudó; Loreto Martorell
Journal:  Eur J Med Genet       Date:  2007-08-06       Impact factor: 2.708

7.  Updating the profile of C-terminal MECP2 deletions in Rett syndrome.

Authors:  A Bebbington; A Percy; J Christodoulou; D Ravine; G Ho; P Jacoby; A Anderson; M Pineda; B Ben Zeev; N Bahi-Buisson; E Smeets; H Leonard
Journal:  J Med Genet       Date:  2009-11-12       Impact factor: 6.318

8.  Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

Authors:  Brittany Gerald; Keri Ramsey; Newell Belnap; Szabolcs Szelinger; Ashley L Siniard; Chris Balak; Megan Russell; Ryan Richholt; Matt De Both; Ana M Claasen; Isabelle Schrauwen; Matthew J Huentelman; David W Craig; Sampathkumar Rangasamy; Vinodh Narayanan
Journal:  Semin Pediatr Neurol       Date:  2017-08-16       Impact factor: 1.636

9.  Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation.

Authors:  Paulina Kyriakopoulos; Vanda McNiven; Melissa T Carter; Peter Humphreys; David Dyment; Tadeu A Fantaneanu
Journal:  Child Neurol Open       Date:  2018-08-23

10.  Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.

Authors:  Susan E Swanberg; Raman P Nagarajan; Sailaja Peddada; Dag H Yasui; Janine M LaSalle
Journal:  Hum Mol Genet       Date:  2008-11-10       Impact factor: 6.150
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  2 in total

1.  Somatic Development Disorders in Children and Adolescents Affected by Syndromes and Diseases Associated with Neurodysfunction and Hydrocephalus Treated/Untreated Surgically.

Authors:  Lidia Perenc; Agnieszka Guzik; Justyna Podgórska-Bednarz; Mariusz Drużbicki
Journal:  Int J Environ Res Public Health       Date:  2022-05-07       Impact factor: 4.614

2.  MeCP2 duplication causes hyperandrogenism by upregulating LHCGR and downregulating RORα.

Authors:  Yu-Meng Wang; Yu Wu; Yu-Fang Zheng; Hong-Yan Wang
Journal:  Cell Death Dis       Date:  2021-10-25       Impact factor: 8.469
  2 in total

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