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Annals of Clinical Biochemistry

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Ann Clin Biochem 2008;45:606-609
doi:10.1258/acb.2008.008038
© 2008 Association for Clinical Biochemistry

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Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene

B Wheeler1, P M George2, K MacKenzie1, P Hunt3, H C Potter2 and C M Florkowski2


1 Paediatric Endocrinology, Department of Paediatrics, Christchurch Hospital; 2 Clinical Biochemistry, Canterbury Health Laboratories; 3 Department of Endocrinology, Christchurch Hospital, Canterbury, New Zealand


Figure 1
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  		Figure 1 Top panel, showing hemizygous TAA sequence at codon 64 in index case 1 resulting in a premature stop codon, compared with wild-type TAC sequence (bottom panel) coding for normal tyrosine and heterozygous sequence (middle panel) from the carrier mother

 

Figure 2
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  		Figure 2 The 51 bp deletion from index Case 2 shown (nt 1068_1118) predicts an in-frame deletion of 17 amino acids (residues 279–295)

 

Figure 3
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  		Figure 3 The 8 bp deletion from index Case 3 shown (nt 1181_1188), results in a frame-shift, with a substitution of leucine for methionine at position 316 and the translation of 60 novel amino acids before truncation

 

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