Recurrent biparental hydatidiform mole: Additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis

Prisana C. Panichkul, Tarek K. Al-Hussaini, Rebecca Sierra, Catherine D. Kashork, Edwina J. Popek, David W. Stockton, Ignatia B. Van Den Veyver

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24 Scopus citations


OBJECTIVES: A maternal autosomal recessive mutation causing recurrent biparentally inherited complete hydatidiform moles (BiCHM) in affected women was previously mapped to a 12.4-cM interval in 19q13.4, which was recently further narrowed to a smaller 1.1-Mb region at the centromeric end. It is believed that the mutant gene in this condition is a major contributor to the regulation of imprinting in the maternal germline. To confirm and possibly narrow the critical interval we studied additional rare familial and recurrent cases. METHODS: Using polymorphic marker analysis, we first confirmed biparental inheritance on the studied molar tissues. We then performed targeted homozygosity mapping with markers in 19q13.4 on DNA from affected women of a new large consanguineous pedigree, an additional potentially familial case, and three cases with sporadic recurrent CHM. Direct sequencing of coding exons and Southern analysis with a coding-region probe for one candidate gene (NALP5) was also performed. RESULTS: Biparental inheritance was confirmed for those molar tissues available for analysis. All women, except for one of the isolated cases, were homozygous for markers in the identified 1.1-Mb region in 19q13.4. No mutations or large genomic rearrangements were found in NALP5 (MATER), a gene with oocyte-specific expression. Heterozygosity for a single-nucleotide polymorphism in exon 13 of NALP5 in one patient may refine the candidate region to 1.0 Mb. CONCLUSIONS: The reported candidate region for BiCHM in 19q13.4 was confirmed in additional families, further establishing it as the major locus that harbors a gene mutated in this condition.

Original languageEnglish
Pages (from-to)376-383
Number of pages8
JournalJournal of the Society for Gynecologic Investigation
Issue number5
StatePublished - Jul 2005


  • 19q13.4
  • Biparental inheritance
  • Hydatidiform mole
  • Maternal imprinting


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