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MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female

  • Maíra Pontual Brandão
  • Elaine Maria Frade Costa
  • Maki Fukami
  • Mariza Gerdulo
  • Natalia P. Pereira
  • Sorahia Domenice
  • Tsutomu Ogata
  • Berenice B. MendoncaEmail author
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)

Abstract

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 [4]. 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.

Keywords

Premature Ovarian Failure Gonadal Dysgenesis Notch Target Gene Graafian Follicle Basal Hormonal Level 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Maíra Pontual Brandão
    • 1
  • Elaine Maria Frade Costa
    • 2
    • 1
  • Maki Fukami
    • 3
  • Mariza Gerdulo
    • 1
  • Natalia P. Pereira
    • 1
  • Sorahia Domenice
    • 2
    • 1
  • Tsutomu Ogata
    • 3
  • Berenice B. Mendonca
    • 1
    Email author
  1. 1.Department of Endocrinology and MetabolismSão Paulo UniversitySao PauloBrazil
  2. 2.Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia, Laboratório de Hormonios e Genetica Molecular, Faculdade de Medicina, Hospital das ClinicasUniversidade de São PauloSao PauloBrasil
  3. 3.Department of Endocrinology and MetabolismNational Research Institute for Child Health and DevelopmentTokyoJapan

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