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Literature DB >> 26254891

Brief report: systematic review of Rett syndrome in males.

Brian Reichow^1,2, Annie George-Puskar³, Tara Lutz³, Isaac C Smith^4,5, Fred R Volkmar⁵.

Abstract

Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients.

Entities: Disease Gene Species

Keywords: Boy; Male; RTT; Rett syndrome; Rett’s syndrome

Mesh：

Substances：

Year: 2015 PMID： 26254891 DOI： 10.1007/s10803-015-2519-1

Source DB: PubMed Journal: J Autism Dev Disord ISSN： 0162-3257

53 in total

1. De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.

Authors: Robert Maiwald; Anselm Bönte; Helena Jung; Pavel Bitter; Zoe Storm; Franco Laccone; Peter Herkenrath
Journal: Neurogenetics Date: 2002-10 Impact factor: 2.660

2. Rett syndrome associated with tuberous sclerosis in a male and in a female: evidence for arrested motor and mental development.

Authors: M Philippart
Journal: Am J Med Genet Date: 1993-12-15

3. Is classical Rett syndrome ever present in males?

Authors: M Coleman
Journal: Brain Dev Date: 1990 Impact factor: 1.961

4. MeCP2 mutations in children with and without the phenotype of Rett syndrome.

Authors: K Hoffbuhr; J M Devaney; B LaFleur; N Sirianni; C Scacheri; J Giron; J Schuette; J Innis; M Marino; M Philippart; V Narayanan; R Umansky; D Kronn; E P Hoffman; S Naidu
Journal: Neurology Date: 2001-06-12 Impact factor: 9.910

5. Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys).

Authors: S G Vorsanova; Y B Yurov; V Y Ulas; I A Demidova; V O Sharonin; A D Kolotii; N L Gorbatchevskaia; A K Beresheva; I V Soloviev
Journal: Brain Dev Date: 2001-12 Impact factor: 1.961

6. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.

Authors: J S Schwartzman; A Bernardino; A Nishimura; R R Gomes; M Zatz
Journal: Neuropediatrics Date: 2001-06 Impact factor: 1.947

7. Classic Rett syndrome in a boy with R133C mutation of MECP2.

Authors: Tatsuo Masuyama; Muneaki Matsuo; Jin J Jing; Yasuharu Tabara; Kyoko Kitsuki; Hidehisa Yamagata; Yuka Kan; Tetsuro Miki; Kiyohisa Ishii; Ikuko Kondo
Journal: Brain Dev Date: 2005-09 Impact factor: 1.961

Review 8. Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

Authors: Ute Moog; Eric E J Smeets; Kees E P van Roozendaal; Sam Schoenmakers; Jos Herbergs; Anneke M J Schoonbrood-Lenssen; Connie T R M Schrander-Stumpel
Journal: Eur J Paediatr Neurol Date: 2003 Impact factor: 3.140

9. Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.

Authors: Shino Shimada; Nobuhiko Okamoto; Kyoko Hirasawa; Keisuke Yoshii; Yumi Tani; Midori Sugawara; Keiko Shimojima; Makiko Osawa; Toshiyuki Yamamoto
Journal: Am J Med Genet A Date: 2013-05-23 Impact factor: 2.802

10. Rett variants: a suggested model for inclusion criteria.

Authors: B A Hagberg; O H Skjeldal
Journal: Pediatr Neurol Date: 1994-07 Impact factor: 3.372

20 in total

1. The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.

Authors: Jeffrey L Neul; Timothy A Benke; Eric D Marsh; Steven A Skinner; Jonathan Merritt; David N Lieberman; Shannon Standridge; Timothy Feyma; Peter Heydemann; Sarika Peters; Robin Ryther; Mary Jones; Bernhard Suter; Walter E Kaufmann; Daniel G Glaze; Alan K Percy
Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2018-12-07 Impact factor: 3.568

2. A boy with developmental regression.

Authors: Kathryn MacLellan; Kellie Davies; Jennifer Fisher; Jean-Francois Lemay
Journal: Paediatr Child Health Date: 2018-05-18 Impact factor: 2.253

Review 3. Heterogeneity in Autism Spectrum Disorder Case-Finding Algorithms in United States Health Administrative Database Analyses.

Authors: Scott D Grosse; Phyllis Nichols; Kwame Nyarko; Matthew Maenner; Melissa L Danielson; Lindsay Shea
Journal: J Autism Dev Disord Date: 2021-09-28

Review 8. Epigenetic alterations induced by environmental stress associated with metabolic and neurodevelopmental disorders.

Authors: Takeo Kubota
Journal: Environ Epigenet Date: 2016-08-08

9. Rett Syndrome in Males: A Case Report and Review of Literature.

Authors: Gurneet Chahil; Anudeep Yelam; Pradeep C Bollu
Journal: Cureus Date: 2018-10-04

10. GlyT2-Dependent Preservation of MECP2-Expression in Inhibitory Neurons Improves Early Respiratory Symptoms but Does Not Rescue Survival in a Mouse Model of Rett Syndrome.

Authors: Swen Hülsmann; Guillaume Mesuret; Julia Dannenberg; Mauricio Arnoldt; Marcus Niebert
Journal: Front Physiol Date: 2016-09-12 Impact factor: 4.566