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Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism
Journal article   Peer reviewed

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism

Laura Pilozzi-Edmonds, Thomas A Maher, Raveen K Basran, Aubrey Milunsky, Khalid Al-Thihli, Nancy E Braverman and Ahmed Alfares
American journal of medical genetics. Part A, Vol.155A(8), pp.1987-1990
08/2011
DOI: https://doi.org/10.1002/ajmg.a.34094
PMID: 21739585

Abstract

Base Sequence Codon, Nonsense Diseases in Twins DNA Mutational Analysis Dwarfism - diagnosis Dwarfism - genetics Face - abnormalities Genetic Diseases, X-Linked - diagnosis Genetic Diseases, X-Linked - genetics Genitalia, Male - abnormalities Germ-Line Mutation Guanine Nucleotide Exchange Factors - genetics Hand Deformities, Congenital - diagnosis Hand Deformities, Congenital - genetics Heart Defects, Congenital - diagnosis Heart Defects, Congenital - genetics Humans Male Mosaicism
Aarskog-Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog-Scott syndrome in male dizygotic twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene.

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