Fig. 4

Gene deletion and duplication analysis map. A Multiplex Ligation-dependent Probe Amplification (MLPA) of the patient and her parents; B shows qRT-PCR results of exon 13 in AGL gene: the relative copy number in the control and the patient’s mother was normal, and the proband and his father were half of the normal; C shows qRT-PCR results of exon 9: the relative copy number in four groups were normal. All these indicates the proband has a heterozygous deletion in AGL gene (exon13), and shows the deletion was inherited from the proband’s father. The Red circle shows the region of fragment deletion, ** means P < 0.01, ‘ns’ means P > 0.05