Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome

Dau Ming Niu, Jing Ying Huang, Hsin Yang Li, Kai Ming Liu, Shih Ting Wang, Yann Jang Chen, Tom Udaka, Kosuke Izumi, Kenjiro Kosaki

研究成果: Article査読

23 被引用数 (Scopus)


Objectives: We report two siblings, a boy and a girl, with Cornelia de Lange syndrome (CdLS), born to unaffected parents, and attempt to delineate the underlying molecular mechanism leading to familial recurrence. Methods: Nipped-B-like (NIPBL) gene mutations were screened using in denaturing high-performance liquid chromatography and sequencing in peripheral blood samples, from one of the affected siblings and her parents, as well as from a sperm sample from the father. Results: A heterozygous missense NIPBL mutation, D2433G, was identified in the peripheral blood sample of the affected girl, but not in the peripheral blood samples of her parents. The D2433G mutation was also found in the sperm sample of the father. Conclusion: Gonadal mosaicism represents an underappreciated feature of the inheritance pattern of CdLS. To our knowledge, the girl represents the first CdLS patient whose father was documented to have a population of mutant sperm. When a sperm analysis indicates the presence of a mutant allele, it may be reasonable to offer prenatal genetic testing to the family in subsequent pregnancies, given that the sensitivity of fetal ultrasonography is relatively low.

ジャーナルPrenatal Diagnosis
出版ステータスPublished - 2006 11月

ASJC Scopus subject areas

  • 産婦人科学
  • 遺伝学(臨床)


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