Date of Award

Spring 4-30-2010

Document Type


First Advisor

Kathleen Arnos

Second Advisor

Raymond Merritt

Third Advisor

Charlene Sorenson


Chromosomal rearrangement such as microdeletions or microduplications, which can alter the dosage of one or more genes, are commonly seen in patients with multiple congenital anomalies (MCA). Alternatively, the discovery of a microdeletion may sometimes uncover an autosomal recessive disorder if the gene on the non-deleted allele carries a mutation. This study reports molecular analysis of a patient with MCAs, including an enlarged head, developmental delay, clouding of the corneas, and short stature. Peters Plus Syndrome (PPS) is characterized as an autosomal recessive disorder. Phenotypical symptoms include various eye abnormalities and structural organ defects. The B3GGALTL has been found to be the causative gene in this syndrome. Genome wide microarray analysis on Patient X detected a 781 kb deletion of chromosome 13q12.3, which is the smallest known deletion involving this region, and includes the B3GALTL, which has been associated with PPS. Since one copy of the B3GALTL was found to be deleted, it was hypothesized that our patient had a mutation on the other non-deleted copy of B3GALTL. Consistent with autosomal recessive inheritance, mutation of both copies is required in order to cause symptoms of PPS. Sequence analysis of the non-deleted allele of the B3GALTL gene showed a point mutation (1020+1G>A) on exon 8, which has been reported previously in patients with PPS. Parental analysis showed the deletion was inherited from the mother and the point mutation was inherited from the father. This case highlights the utility of microarray-based genome wide analysis in the diagnosis of genetic diseases.



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