Figure 4

Detection of rearrangements involving whole genes and neighboring genomic regions. (a) Heterozygous deletion of 740 kb involving the entire LIS1 (PAFHB1) gene and neighboring MET1OD, KIAA0064 and GARNL4 genes identified in patient 31 with a Mieller Diecker syndrome. The MNT and OR3A2 genes are not deleted. (b) Hemizygous deletion of the entire KAL1 gene in patient 35 with Kallman syndrome associated with ocular albinism, corresponding to a neomutation event. A 2297-kb deletion is detected in the patient sample and involves not only the KAL1 gene, but also neighboring genomic region including the GPR143 (OA1) gene. Mutations in this gene are known to be associated with ocular albinism phenotypes. The deletion is not detected in DNA sample from the mother.