Germline mosaicism in Cornelia de Lange syndrome.

American Journal of Medical Genetics. Part a
Thomas P SlavinIan D Krantz

Abstract

Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with delayed growth, intellectual disability, limb reduction defects, and characteristic facial features. Germline mosaicism has been a described mechanism for CdLS when there are several affected offspring of apparently unaffected parents. Presently, the recurrence risk for CdLS has been estimated to be as high as 1.5%; however, this figure may be an underrepresentation. We report on the molecularly defined germline mosaicism cases from a large CdLS database, representing the first large case series on germline mosaicism in CdLS. Of the 12 families, eight have been previously described; however, four have not. No one specific gene mutation, either in the NIPBL or the SMC1A gene, was associated with an increased risk for germline mosaicism. Suspected or confirmed cases of germline mosaicism in our database range from a conservative 3.4% up to 5.4% of our total cohort. In conclusion, the potential reproductive recurrence risk due to germline mosiacism should be addressed in prenatal counseling for all families who have had a previously affected pregnancy or child with CdLS.

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Citations

May 23, 2013·American Journal of Medical Genetics. Part a·Thomas P Slavin, Ian Krantz
May 23, 2013·American Journal of Medical Genetics. Part a·Milena MarianiAngelo Selicorni
Sep 17, 2013·Human Mutation·Linda ManniniAntonio Musio
Dec 7, 2013·American Journal of Medical Genetics. Part a·Javier SánchezSalud Borrego
Sep 12, 2014·Clinical Genetics·M I BoyleZ Tümer
Dec 30, 2014·European Journal of Human Genetics : EJHG·Feliciano J RamosJuan Pié
Apr 30, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Maninder KaurIan D Krantz
Feb 6, 2018·European Journal of Immunology·Yunting LinXiuzhen Li
Jul 12, 2018·Nature Reviews. Genetics·Antonie D KlineRaoul C Hennekam
Jan 1, 2014·F1000Research·Vito LeanzaGianluca Leanza
Jul 14, 2019·The Laryngoscope·Mathieu BergeronStacey L Ishman
May 16, 2019·Prenatal Diagnosis·Florencia PetracchiLouise Wilkins-Haug
Nov 11, 2019·Journal of Medical Genetics·Patrizia SarogniAntonio Musio
Apr 24, 2018·American Journal of Medical Genetics. Part a·Emma BedoukianMatthew Deardorff
Mar 31, 2020·Gene·Antonio Musio

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