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Clinical Dysmorphology Jan 2013In this report, we describe a kindred consisting of five affected males presenting with many of the well-recognized features of Aarskog-Scott syndrome. The diagnosis,...
In this report, we describe a kindred consisting of five affected males presenting with many of the well-recognized features of Aarskog-Scott syndrome. The diagnosis, which was confirmed by the identification of a novel nonsense mutation of FGD1, was associated with the presence of a symmetric distal arthropathy with electromyographic signs of myopathy. These features should be considered in the evaluation of future patients.
Topics: Adolescent; Blepharoptosis; Child, Preschool; Codon, Nonsense; DNA Mutational Analysis; Dwarfism; Electromyography; Face; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Infant; Joint Diseases; Male; Muscular Diseases; Young Adult
PubMed: 23211637
DOI: 10.1097/MCD.0b013e32835b6dc4 -
Clinical Genetics Mar 1984A 17-year-old female developed a syndrome of benign intracranial hypertension after a minor craniocerebral trauma. On the vertex a congenital scalp anomaly was noticed....
A 17-year-old female developed a syndrome of benign intracranial hypertension after a minor craniocerebral trauma. On the vertex a congenital scalp anomaly was noticed. An underlying bone defect was revealed by skull radiographs. Cerebral angiography showed absence of the straight sinus as well as other abnormalities of the cerebral venous drainage. In addition, several dysmorphic features, especially of the face and hands were present, which were also found in the mother and the sister. These stigmata could be interpreted as a partial expression of the Aarskog (facial-digital-genital) syndrome after examination of the 9-year-old brother who presented the typical facial, digital and genital features of this X-linked recessively inherited syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Cerebral Angiography; Child; Female; Genes, Recessive; Genetic Linkage; Humans; Intracranial Arteriovenous Malformations; Male; Pseudotumor Cerebri; Scalp; Syndrome; X Chromosome
PubMed: 6705262
DOI: 10.1111/j.1399-0004.1984.tb01991.x -
Ophthalmic Genetics Mar 1994Aarskog syndrome (faciogenital dysplasia) is a genetic growth disorder characterized by short stature, cryptorchidism, shawl scrotum, and dysmorphic facial features....
Aarskog syndrome (faciogenital dysplasia) is a genetic growth disorder characterized by short stature, cryptorchidism, shawl scrotum, and dysmorphic facial features. Ophthalmic findings include hypertelorism, blepharoptosis, strabismus, and ophthalmoplegia. The authors report a patient with Aarskog syndrome and bilateral retinal vessel tortuosity. This is the first retinal anomaly associated with Aarskog syndrome.
Topics: Abnormalities, Multiple; Child; Facial Bones; Fundus Oculi; Genitalia, Male; Humans; Hypertelorism; Male; Retinal Vessels
PubMed: 7953251
DOI: 10.3109/13816819409056909 -
Clinical Genetics Dec 1983A large family in which the Aarskog syndrome is transmitted in three generations was studied. In affected males, a large variability of expression was observed, while...
A large family in which the Aarskog syndrome is transmitted in three generations was studied. In affected males, a large variability of expression was observed, while females show minor signs only. However it is sometimes possible to identify individual females as carriers. The observation of male to male transmission and the absence of symptoms in some daughters of affected male persons suggest a sex-influenced autosomal inheritance in this family. This may suggest heterogeneity in the Aarskog syndrome, since in most families described an X-linked recessive mode of inheritance was indicated.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Dwarfism; Face; Female; Foot Deformities, Congenital; Genes, Recessive; Hand Deformities, Congenital; Heterozygote; Humans; Hypertelorism; Male; Middle Aged; Syndrome; X Chromosome
PubMed: 6652957
DOI: 10.1111/j.1399-0004.1983.tb00100.x -
BMC Pediatrics Jan 2017The X-linked condition "Aarskog-Scott syndrome (AAS)" causes a characteristic combination of short stature, facial, genital and skeletal anomalies. Studies elucidated a...
BACKGROUND
The X-linked condition "Aarskog-Scott syndrome (AAS)" causes a characteristic combination of short stature, facial, genital and skeletal anomalies. Studies elucidated a causative link between AAS and mutations in the FGD1 gene, which encodes a Rho/Rac guanine exchange factor. FGD1 is involved in regulating signaling pathways that control cytoskeleton organization and embryogenesis.
CASE PRESENTATION
FGD1 was studied in an Emirati family with two cases of AAS using PCR amplification and direct sequencing of the entire coding region of the gene. Various in silico tools were also used to predict the functional consequences of FGD1 mutations. In the reported family, two brothers harbor a novel hemizygous mutation in FGD1 c.53del (p.Pro18Argfs*106) for which the mother is heterozygous. This frameshift deletion, being close to N-terminus of FGD1, is predicted to shift the reading frame in a way that it translates to 105 erroneous amino acids followed by a premature stop codon at position 106. Full molecular and clinical accounts about the variant are given so as to expand molecular and phenotypical knowledge about this disorder.
CONCLUSIONS
A novel variant in FGD1 was found in an Emirati family with two brothers suffering from AAS. The variant is predicted to be a null mutation, and this is the first report of its kind from the United Arab Emirates.
Topics: Base Sequence; Child; Child, Preschool; Dwarfism; Face; Frameshift Mutation; Genetic Diseases, X-Linked; Genetic Markers; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Sequence Deletion; United Arab Emirates
PubMed: 28103835
DOI: 10.1186/s12887-017-0781-4 -
American Journal of Ophthalmology Apr 1990The Aarskog (facial-digital-genital) syndrome is an X-linked disorder in which short stature is accompanied by hypertelorism, digital anomalies, and shawl scrotum....
The Aarskog (facial-digital-genital) syndrome is an X-linked disorder in which short stature is accompanied by hypertelorism, digital anomalies, and shawl scrotum. Except for hypertelorism and blepharoptosis, ophthalmic abnormalities have been rarely noted in this condition. We examined four patients who had Aarskog syndrome and unilaterally or bilaterally decreased vision on initial examination. Three family members had V-pattern esotropia, latent nystagmus, inferior oblique overaction, and amblyopia. A fourth patient had bilateral blepharoptosis and severe astigmatism. Other ocular features included hyperopia, anisometropia, deficient ocular elevation, blue sclerae, and posterior embryotoxon. These findings underscore the need for ophthalmic examination in asymptomatic patients with Aarskog syndrome to rule out treatable causes of visual loss.
Topics: Abnormalities, Multiple; Adult; Amblyopia; Astigmatism; Blepharoptosis; Body Height; Bone Diseases, Developmental; Child; Child, Preschool; Eye Diseases; Female; Genetic Linkage; Genitalia, Male; Hand Deformities, Congenital; Humans; Hypertelorism; Male; Strabismus; Syndrome; X Chromosome
PubMed: 2330948
DOI: 10.1016/s0002-9394(14)74612-4 -
American Journal of Medical Genetics.... Aug 2011Aarskog-Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog-Scott syndrome in male...
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.
Topics: Base Sequence; Codon, Nonsense; DNA Mutational Analysis; Diseases in Twins; Dwarfism; Face; Genetic Diseases, X-Linked; Genitalia, Male; Germ-Line Mutation; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Mosaicism
PubMed: 21739585
DOI: 10.1002/ajmg.a.34094 -
European Journal of Human Genetics :... Nov 2000The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and...
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.
Topics: Abnormalities, Multiple; Amino Acid Sequence; Amino Acid Substitution; Base Sequence; DNA; DNA Mutational Analysis; Facial Bones; Family Health; Female; Guanine Nucleotide Exchange Factors; Humans; Male; Mutation; Pedigree; Point Mutation; Polymorphism, Single-Stranded Conformational; Proteins; Syndrome; Urogenital Abnormalities; X Chromosome
PubMed: 11093277
DOI: 10.1038/sj.ejhg.5200553 -
Human Molecular Genetics Oct 1993
Topics: Abnormalities, Multiple; Chromosome Mapping; Chromosomes, Human, Pair 8; Dwarfism; Face; Female; Genetic Markers; Hand Deformities, Congenital; Humans; Male; Scrotum; Syndrome; Translocation, Genetic; X Chromosome
PubMed: 8268928
DOI: 10.1093/hmg/2.10.1717 -
Journal de Genetique Humaine Sep 1989In this report we present follow-up on two moderately mentally retarded boys with Aarskog syndrome. As 22 other mentally normal Aarskog patients these two boys presented...
In this report we present follow-up on two moderately mentally retarded boys with Aarskog syndrome. As 22 other mentally normal Aarskog patients these two boys presented a catch-up after a delayed puberty with a final adult height of 160 cm. A remarkable finding was the development of macroorchidism in two mentally retarded Aarskog patients. The pathogenesis of macroorchidism in the fragile X syndrome and in other X-linked mental retardation syndromes is discussed.
Topics: Growth Disorders; Intellectual Disability; Male; Syndrome; Testis
PubMed: 2625624
DOI: No ID Found