Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome
Copyright policy )Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome
The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and skeletal anomalies. It is caused by mutation of the FGD1 gene mapped to the Xp11.21 region. To date, only one point mutation has been reported in an affected family, consisting of the insertion of an additional guanine residue at nucleotide 2122 of exon 7, which causes premature translational termination. We now report the finding of two novel FGD1 mutations, a missense mutation in a family of Italian origin and a deletion of 3 exons in a sporadic case from Germany. These mutations confirm the role of FGD1 as the gene responsible for the Aarskog syndrome.
- University of Zurich Switzerland
- Istituti di Ricovero e Cura a Carattere Scientifico Italy
- University of Michigan–Ann Arbor United States
- Agostino Gemelli University Polyclinic Italy
- University of Duisburg-Essen Germany
Male, 2716 Genetics (clinical), X Chromosome, 10039 Institute of Medical Genetics, DNA Mutational Analysis, 610 Medicine & health, Facial Bones, 1311 Genetics, Guanine Nucleotide Exchange Factors, Humans, Point Mutation, Abnormalities, Multiple, Amino Acid Sequence, Polymorphism, Single-Stranded Conformational, Family Health, Base Sequence, Proteins, DNA, Syndrome, Pedigree, Amino Acid Substitution, Urogenital Abnormalities, Mutation, 570 Life sciences; biology, Female
Male, 2716 Genetics (clinical), X Chromosome, 10039 Institute of Medical Genetics, DNA Mutational Analysis, 610 Medicine & health, Facial Bones, 1311 Genetics, Guanine Nucleotide Exchange Factors, Humans, Point Mutation, Abnormalities, Multiple, Amino Acid Sequence, Polymorphism, Single-Stranded Conformational, Family Health, Base Sequence, Proteins, DNA, Syndrome, Pedigree, Amino Acid Substitution, Urogenital Abnormalities, Mutation, 570 Life sciences; biology, Female
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