Absence of mutations involving the lim homeobox domain gene LDX9 in 46,XY gonadal agenesis and dysgenesis

Chris Ottolenghi, Carlos Moreira-Filho, Berenice B. Mendonça, Marcello Barbieri, Marc Fellous, Gary D. Berkovitz, Ken Mcelreavey

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


The etiology of most cases of 46,XY gonadal dysgenesis in the absence of extragenital anomalies is not accounted for by mutations in the genes known to date to be involved in sex determination. We have investigated the possibility that mutations in the gene LHX9, whose murine ortholog causes isolated gonadal agenesis when inactivated, might be responsible for gonadal dysgenesis and agenesis in humans. We isolated a human LHX9 complementary DNA (cDNA), mapped the gene to the long arm of human chromosome 1, and determined its genomic structure. We found that LHX9 is highly con- served between species, sharing in particular over 98% amino acid identity. A mutational screen was performed in a sample of patients with a range of gonadal maldevelopment, including bilateral gonadal agenesis in two sisters with an opposite sex karyotype. We did not detect mutations in the open reading frame of LHX9 in the patients studied. However, the extent of between-species structural conservation suggests that LHX9 deserves further consideration as a determinant of gonadal function in humans.

Original languageEnglish (US)
Pages (from-to)2465-2469
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Issue number6
StatePublished - 2001

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical


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