MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female
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A number of reports indicate that premature ovarian failure (POF) may be inherited as an X-linked condition [1–3]. In particular, Xq deletions encompassing the region from q13 to q28 have been related to POF. A heterozygous female for a microdeletion involving Xq28 region has been described . Recently, MAMLD1 (mastermind-like domain 1) was identified as a candidate gene for 46,XY DSD. It is located at Xq28 and spans 70 kb in genomic sequence and comprises seven exons. Due to in-frame alternative splicing, exons 3–6 encode for two proteins of 701 and 660 amino acids, respectively, depending on whether the transcript includes or excludes exon 4.
KeywordsPremature Ovarian Failure Gonadal Dysgenesis Notch Target Gene Graafian Follicle Basal Hormonal Level
- 7.Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K., Laporte J, Kitagawa M and Ogata T. Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. J Biol Chem 2008; 283(9):5525–5532.PubMedCrossRefGoogle Scholar