Familial cases of XXXX detected by copy number analysis.

@entity1 @entity1032 @entity1713 @entity1112 @entity5575 @entity8707 @entity21747 @entity11702 @entity48178
PURPOSE: @entity11702 ( @entity11702 , MIM#310600) is an @entity1112 characterized by severe @entity21747 at birth. We report the results of causative @entity48178 gene analysis in three male siblings with @entity11702 and describe the associated phenotypes. METHODS: Three brothers with suspected @entity11702 and their mother presented for clinical examination. After obtaining informed consent, DNA was extracted from the peripheral blood of the proband, one of his brothers and his unaffected mother. Exons 1-3 of the @entity48178 gene were amplified by polymerase chain reaction (PCR), and direct sequencing was performed. Multiplex ligation-dependent probe amplification (MLPA) was also performed to search for copy number variants in the @entity48178 gene. RESULTS: The clinical findings of the three brothers included no light perception, @entity5575 , @entity8707 , leukocoria, @entity1713 and @entity1032 . Exon 2 of the @entity48178 gene was not amplified in the proband and one brother, even when the PCR primers for exon 2 were changed, whereas the other two exons showed no mutations by direct sequencing. MLPA analysis showed deletion of exon 2 of the @entity48178 gene in the proband and one brother, while there was only one copy of exon 2 in the mother. CONCLUSION: @entity11702 was diagnosed in three @entity1 from a Japanese family by clinical examination and was confirmed by genetic analysis. To localize the defect, confirmation of copy number variation by the MLPA method was useful in the present study.
