Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum
W Borozdin, MJ Wright, RCM Hennekam… - Journal of medical …, 2004 - jmg.bmj.com
W Borozdin, MJ Wright, RCM Hennekam, MC Hannibal, YJ Crow, TE Neumann, J Kohlhase
Journal of medical genetics, 2004•jmg.bmj.comMETHODS Patients Venous blood was collected from patients and unaffected relatives after
obtaining their informed consent. Genetic analysis Genomic DNA was prepared from
peripheral lymphocytes by routine procedures. Mutation analysis of SALL4 exons 1–4
(complete coding region) was performed as described. 5 Mutations were confirmed by a
second, independent PCR, and direct sequencing of amplicons. In one family, the exact
mutation was not readable from the direct sequencing
obtaining their informed consent. Genetic analysis Genomic DNA was prepared from
peripheral lymphocytes by routine procedures. Mutation analysis of SALL4 exons 1–4
(complete coding region) was performed as described. 5 Mutations were confirmed by a
second, independent PCR, and direct sequencing of amplicons. In one family, the exact
mutation was not readable from the direct sequencing
METHODS Patients Venous blood was collected from patients and unaffected relatives after obtaining their informed consent.
Genetic analysis Genomic DNA was prepared from peripheral lymphocytes by routine procedures. Mutation analysis of SALL4 exons 1–4 (complete coding region) was performed as described. 5 Mutations were confirmed by a second, independent PCR, and direct sequencing of amplicons. In one family, the exact mutation was not readable from the direct sequencing
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