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Special Features: Régis Coutant, Delphine Mallet, Najiba Lahlou, Natacha Bouhours-Nouet, Agnès Guichet, Lionel Coupris, Anne Croué, and Yves Morel Heterozygous Mutation of Steroidogenic Factor-1 in 46,XY Subjects May Mimic Partial Androgen Insensitivity Syndrome J Clin Endocrinol Metab 2007; 92: 2868-2873 [Abstract] [Full text] [PDF]

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Yves Morel, Régis Coutant, Delphine Mallet, Najiba Lahlou, Natacha Bouhours-Nouet, Agnès Guichet, Lionel Coupris, Anne Croué   (31 January 2008)

Interpretation of chromatogram in Figure 2A

Eric J Lambie, Nicolai W. Buhr, Michael J. Chen, Wei Chen, Matthew J. Fisher, Deborah M. Lee, Pamela J. Tieu   (31 January 2008)

Author's Response to Letter 31 January 2008
Yves Morel, Chef de service Service d'Endocrinologie Moléculaire et Maladies Rares, Régis Coutant, Delphine Mallet, Najiba Lahlou, Natacha Bouhours-Nouet, Agnès Guichet, Lionel Coupris, Anne Croué Send letter to journal: Re: Author's Response to Letter yves.morel{at}chu-lyon.fr Yves Morel, et al.	We are replying to Dr. Lambie's letter related to our published paper, "Heterozygous Mutation of Steroidogenic Factor-1 in 46,XY Subjects May Mimic Partial Androgen Insensitivity Syndrome". We confirmed that the two patients are heterozygous for a single C deletion in location 536, in exon 4 (mutation c.536delC). This mutation replaces the proline in location 179 by a histidine, causes a frameshift and introduces a premature stop codon in location 295, 116 codons after the codon encoding for the proline 179 (mutation p.P179HfsX116). The reader's misinterpretation of the sequence is because we failed to mention that all chromatograms shown in the paper represent sequences performed with an antisense primer. Consequently, the sequences of all heterozygous subjects look clean at the "end", whereas the beginning shows two superimposed sequences. A more detailed description of the sequence and a figure showing a chromatogram obtained with a sense primer in the index case has been uploaded as supplemental files to our paper and can be downloaded from our published paper (and the Table of Contents of the August 2007 issue)
Interpretation of chromatogram in Figure 2A 31 January 2008
Eric J Lambie, Associate Professor of Biological Sciences Dartmouth College, Nicolai W. Buhr, Michael J. Chen, Wei Chen, Matthew J. Fisher, Deborah M. Lee, Pamela J. Tieu Send letter to journal: Re: Interpretation of chromatogram in Figure 2A eric.j.lambie{at}dartmouth.edu Eric J Lambie, et al.	In the paper by Coutant et al. (1) we were very interested in the description of a mutation in SF-1 that mimics PAIS, but we were puzzled by the chromatograms shown in Fig. 2A. If the mother and two affected children are heterozygous for a frameshift, then double peaks should persist throughout all of the sequence after the deleted base; however, the final five peaks (CACTG) all look very clean, so perhaps the mutation is more complicated than a single C deletion. From our inspection, it seems that the sequence of the mother's aberrant allele for this region might be CCcacgGGCACTG. This would result in an change in the amino acid coding in this region from AHGPLAG to APRALAG. Reference 1. Coutant R, Mallet D, Lahlou N, Bouhours-Nouet N, Guichet A, Coupris L, Croué A, Morel Y. 2006. Heterozygous Mutation of Steroidogenic Factor-1 in 46,XY Subjects May Mimic Partial Androgen Insensitivity Syndrome. J Clin Endocrinol Metab 92:2868-2873