Literature DB >> 22768674

Warburg Micro syndrome.

Fatma Dursun1, Ayla Güven, Deborah Morris-Rosendahl.   

Abstract

Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism. We report an 11-month-old boy who was referred for assessment of micropenis and cryptorchidism. Sequence analysis of exon 8 of the RAB3GAP1 gene confirmed the presence of a splice donor mutation (748+1G>A) in the homozygous state.

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Year:  2012        PMID: 22768674     DOI: 10.1515/jpem-2011-0459

Source DB:  PubMed          Journal:  J Pediatr Endocrinol Metab        ISSN: 0334-018X            Impact factor:   1.634


  8 in total

1.  Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

Authors:  Ryan P Liegel; Mark T Handley; Adam Ronchetti; Stephen Brown; Lars Langemeyer; Andrea Linford; Bo Chang; Deborah J Morris-Rosendahl; Sarah Carpanini; Renata Posmyk; Verity Harthill; Eamonn Sheridan; Ghada M H Abdel-Salam; Paulien A Terhal; Francesca Faravelli; Patrizia Accorsi; Lucio Giordano; Lorenzo Pinelli; Britta Hartmann; Allison D Ebert; Francis A Barr; Irene A Aligianis; Duska J Sidjanin
Journal:  Am J Hum Genet       Date:  2013-11-14       Impact factor: 11.025

Review 2.  Emerging links between homeostatic synaptic plasticity and neurological disease.

Authors:  Joyce Wondolowski; Dion Dickman
Journal:  Front Cell Neurosci       Date:  2013-11-21       Impact factor: 5.505

3.  Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome.

Authors:  Eri Imagawa; Ryoko Fukai; Mahdiyeh Behnam; Manisha Goyal; Narges Nouri; Mitsuko Nakashima; Yoshinori Tsurusaki; Hirotomo Saitsu; Mansour Salehi; Seema Kapoor; Fumiaki Tanaka; Noriko Miyake; Naomichi Matsumoto
Journal:  Hum Genome Var       Date:  2015-09-17

4.  Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria.

Authors:  Soubhi Tenawi; Rawan Al Khudari; Diana Alasmar
Journal:  Oxf Med Case Reports       Date:  2020-05-23

5.  A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report.

Authors:  Dan Zhou; Qiu Wang; Hanmin Liu
Journal:  Medicine (Baltimore)       Date:  2021-01-15       Impact factor: 1.817

6.  Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.

Authors:  Raziyeh Khalesi; Ehsan Razmara; Golareh Asgaritarghi; Ali Reza Tavasoli; Yasser Riazalhosseini; Daniel Auld; Masoud Garshasbi
Journal:  BMC Neurol       Date:  2021-04-28       Impact factor: 2.903

7.  Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome.

Authors:  Nesrine Kerkeni; Maher Kharrat; Faouzi Maazoul; Hela Boudabous; Ridha M'rad; Mediha Trabelsi
Journal:  J Clin Neurol       Date:  2022-02-14       Impact factor: 3.077

8.  Rab proteins implicated in lipid storage and mobilization.

Authors:  Robert Scott Kiss; Tommy Nilsson
Journal:  J Biomed Res       Date:  2014-03-26
  8 in total

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