Warburg Micro syndrome in a Turkish boy

doi:10.1097/MCD.0b013e328054c404

Case Reports

. 2007 Apr;16(2):89-93.

doi: 10.1097/MCD.0b013e328054c404.

Warburg Micro syndrome in a Turkish boy

Adnan Yüksel¹, Gözde Yesil, Cengiz Aras, Mehmet Seven

Affiliations

PMID: 17351351
DOI: 10.1097/MCD.0b013e328054c404

Case Reports

Warburg Micro syndrome in a Turkish boy

Adnan Yüksel et al. Clin Dysmorphol. 2007 Apr.

. 2007 Apr;16(2):89-93.

doi: 10.1097/MCD.0b013e328054c404.

Authors

Adnan Yüksel¹, Gözde Yesil, Cengiz Aras, Mehmet Seven

Affiliation

¹ Departments of Medical Genetics Ophthalmology Medical Biology, Istanbul University Cerrahpasa Medical Faculty, Istanbul, Turkey.

PMID: 17351351
DOI: 10.1097/MCD.0b013e328054c404

Abstract

We report a 4-year-old Turkish boy with Warburg Micro syndrome born to consanguineous parents. He had ptosis, deep-set eyes, microphthalmia, microcornea, microcephaly, prominent ears and nasal root, micrognathia, hypertrichosis, spastic diplegia, skin hyperextensibility and joint hypermobility, hypogenitalism, cerebral atrophy and hypoplasia of corpus callosum and cerebellum. Sequence analysis of exon 8 of the RAB3GAP gene has confirmed the presence of a splice donor mutation (748+1G>A) in the homozygous state. Skin hyperextensibility and joint hypermobility in the affected child have not been reported in Warburg Micro syndrome cases to date. This report compares the symptoms and features of the case with previously reported cases of Warburg Micro syndrome.

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References

1. Ainsworth JR, Morton JE, Good P, Woods CG, George NDL, Shield JP, et al. 2001. Micro syndrome in Muslim Pakistani children. Ophthalmology 108:491–497.
1. Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, et al. 2005. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nature Genet 37:221–223.
1. Czeizel A, Lowry RB 1990. Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs. Acta Paediat Hung 30:343–349.
1. Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatci U 2004. Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of micro syndrome. Am J Med Genet 128A:232–234.
1. Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, et al. 2001. Cerebro-oculo- facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet 69:291–300.

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[1] Ainsworth JR, Morton JE, Good P, Woods CG, George NDL, Shield JP, et al. 2001. Micro syndrome in Muslim Pakistani children. Ophthalmology 108:491–497.

[2] Ainsworth JR, Morton JE, Good P, Woods CG, George NDL, Shield JP, et al. 2001. Micro syndrome in Muslim Pakistani children. Ophthalmology 108:491–497.

[3] Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, et al. 2005. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nature Genet 37:221–223.

[4] Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, et al. 2005. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nature Genet 37:221–223.

[5] Czeizel A, Lowry RB 1990. Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs. Acta Paediat Hung 30:343–349.

[6] Czeizel A, Lowry RB 1990. Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs. Acta Paediat Hung 30:343–349.

[7] Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatci U 2004. Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of micro syndrome. Am J Med Genet 128A:232–234.

[8] Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatci U 2004. Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of micro syndrome. Am J Med Genet 128A:232–234.

[9] Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, et al. 2001. Cerebro-oculo- facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet 69:291–300.

[10] Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, et al. 2001. Cerebro-oculo- facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet 69:291–300.

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Warburg Micro syndrome in a Turkish boy

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Warburg Micro syndrome in a Turkish boy

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