A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation

Molecular Cytogenetics

Zhengfeng Xu¹  Long Yi²  Jing Zhou¹  Yan Wang¹  Fengchang Qiao¹  Dingyuan Ma¹  Lulu Meng¹  Ping Hu¹ 

[1] State key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing 210029, Baixia District, China;Department of Pathology, Nanjing University Medical School, Nanjing, China

关键词: SNP-array;    Aniridia;    Mental retardation;    11p13 deletion;    PAX6;   

Others  :  1139694
DOI  :  10.1186/s13039-015-0110-2

 received in 2014-09-01, accepted in 2015-01-09,  发布年份 2015

【 摘 要 】

Purpose

To explore possible genetic aberrations in a Chinese family with aniridia, ptosis and mental retardation, and provide genetic evidence for the prenatal diagnosis.

Methods

14 exons of PAX6 in the proband were sequenced by the Sanger sequencing technique. Multiplex ligation-dependent probe amplification (MLPA) technique was employed to further explore gene alterations of PAX6. Single nucleotide polymorphisms-array (SNP-array) assay was applied to screen potential pathologic genome-wide copy number variations (CNV).

Results

There were no detectable pathogenic mutations in the 14 exons of PAX6 in the proband. MLPA indicated a heterozygous deletion encompassing all PAX6 gene regions covered and a partial upstream region. SNP-array assay detected a heterozygous 11p13 microdeletion with a length of 518 kb in the proband, spanning two whole annotated genes, elongation factor protein 4 (ELP4), the paired box gene 6 (PAX6), and partial IMP1 inner-mitochondrial membrane (IMMP1L) gene. SNP-array revealed her affected brother carried the identical deletion.

Conclusions

The 518 kb heterozygous deletion in 11p13 encompassing PAX6 should be the genetic etiology for the familial aniridia.

【 授权许可】

   
2015 Hu et al.; licensee BioMed Central.

【 图 表 】

Figure 1.

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