Literature DB >> 10465117

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

A Mégarbané1, R Choueiri, J Bleik, M Mezzina, C Caillaud.   

Abstract

We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.

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Year:  1999        PMID: 10465117      PMCID: PMC1762968     

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  6 in total

1.  New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Authors:  Deborah J Morris-Rosendahl; Reeval Segel; A Peter Born; Christoph Conrad; Bart Loeys; Susan Sklower Brooks; Laura Müller; Christine Zeschnigk; Christina Botti; Ron Rabinowitz; Gökhan Uyanik; Marc-Antoine Crocq; Uwe Kraus; Ingrid Degen; Fran Faes
Journal:  Eur J Hum Genet       Date:  2010-05-26       Impact factor: 4.246

2.  Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B.

Authors:  Fang-Shin Nian; Lei-Li Li; Chih-Ya Cheng; Pei-Chun Wu; You-Tai Lin; Cheng-Yung Tang; Bo-Shiun Ren; Chin-Yin Tai; Ming-Ji Fann; Lung-Sen Kao; Chen-Jee Hong; Jin-Wu Tsai
Journal:  Mol Neurobiol       Date:  2019-02-05       Impact factor: 5.590

3.  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

4.  Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

Authors:  Sylvie Picker-Minh; Andreas Busche; Britta Hartmann; Birgit Spors; Eva Klopocki; Christoph Hübner; Denise Horn; Angela M Kaindl
Journal:  Orphanet J Rare Dis       Date:  2014-10-21       Impact factor: 4.123

5.  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

6.  Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

Authors:  Irene A Aligianis; Neil V Morgan; Marina Mione; Colin A Johnson; Elisabeth Rosser; Raoul C Hennekam; Gill Adams; Richard C Trembath; Daniela T Pilz; Neil Stoodley; Anthony T Moore; Steve Wilson; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2006-02-14       Impact factor: 11.025

  6 in total

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