Literature DB >> 20563586

[Etiology and genetic aspects of Möbius sequence].

H Gaspar.   

Abstract

Möbius sequence is a rare congenital disorder defined by partial or complete agenesis of the 6th and 7th cranial nerves, which control eye movement and facial expression. The etiology is unclear but genetic and teratogenic factors are thought to be involved. Ischemia affecting the cranial nerve nuclei is a possible pathomechanism of Möbius sequence. Most cases of Möbius sequence are sporadic but some familial cases are also known. The inheritance patterns of Möbius sequence are heterogeneous and can be autosomal recessive, autosomal dominant or even X-linked. Some candidate regions and candidate genes have been described but no causative gene has yet been confirmed.

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Year:  2010        PMID: 20563586     DOI: 10.1007/s00347-010-2146-3

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN: 0941-293X            Impact factor:   1.059


  25 in total

1.  Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10.

Authors:  B Van Der Zwaag; H T F M Verzijl; D Beltran-Valero De Bernabe; V L Schuster; H Van Bokhoven; H Kremer; M Van Reen; G H Wichers; H G Brunner; G W Padberg
Journal:  J Med Genet       Date:  2002-06       Impact factor: 6.318

2.  Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

Authors:  Harriëtte T F M Verzijl; Bert van der Zwaag; Johannes R M Cruysberg; George W Padberg
Journal:  Neurology       Date:  2003-08-12       Impact factor: 9.910

3.  SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome.

Authors:  H P Wilmore; M J Smith; S A Wilcox; K M Bell; A H Sinclair
Journal:  Hum Genet       Date:  2000-03       Impact factor: 4.132

4.  Möbius syndrome: classification and grading system.

Authors:  D L Abramson; M M Cohen; J B Mulliken
Journal:  Plast Reconstr Surg       Date:  1998-09       Impact factor: 4.730

5.  Mobius sequence--a Swedish multidiscipline study.

Authors:  Kerstin Strömland; Lotta Sjögreen; Marilyn Miller; Christopher Gillberg; Elisabet Wentz; Maria Johansson; Olle Nylén; Aina Danielsson; Catharina Jacobsson; Jan Andersson; Elisabeth Fernell
Journal:  Eur J Paediatr Neurol       Date:  2002       Impact factor: 3.140

Review 6.  Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.

Authors:  J N Bavinck; D D Weaver
Journal:  Am J Med Genet       Date:  1986-04

7.  Hoxb-4 (Hox-2.6) mutant mice show homeotic transformation of a cervical vertebra and defects in the closure of the sternal rudiments.

Authors:  R Ramírez-Solis; H Zheng; J Whiting; R Krumlauf; A Bradley
Journal:  Cell       Date:  1993-04-23       Impact factor: 41.582

8.  Broad-spectrum Möbius syndrome associated with a 1;11 chromosome translocation.

Authors:  S P Donahue; S L Wenger; M W Steele; M B Gorin
Journal:  Ophthalmic Paediatr Genet       Date:  1993-03

9.  Möbius sequence in children exposed in utero to misoprostol: neuropathological study of three cases.

Authors:  Maria Joaquina Marques-Dias; Claudette H Gonzalez; Sergio Rosemberg
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2003-12

10.  Targeted disruption of the Hoxb-2 locus in mice interferes with expression of Hoxb-1 and Hoxb-4.

Authors:  J R Barrow; M R Capecchi
Journal:  Development       Date:  1996-12       Impact factor: 6.868

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