Annals of Clinical Biochemistry > Volume 45, Number 6 > Pp. 606-609

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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

View larger version (32K): [in this window] [in a new window]   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

 

View larger version (13K): [in this window] [in a new window]   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)

 

View larger version (40K): [in this window] [in a new window]   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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