Aarskog syndrome.

Porteous, Mary; Goudie, David

doi:10.1136/jmg.28.1.44

Cited by 48 publications

(42 citation statements)

References 17 publications

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“…Consequently, clinically based epidemiological studies that estimate a high prevalence of AAS need to be considered with caution as diagnostic confusion could account for ascertainment bias. 11 In addition, it has been reported that some degree of cognitive impairment may be as high as 30% in the AAS subjects, 12 while other studies reject the association with mental handicap. 13 As a further confounding issue, a recent report of nonsyndromic XLMR associated to the P312L FGD1 mutation 8 gives additional evidence that mental impairment may be part of the phenotype, even in the absence of the typical AAS features.…”

Section: Introductionmentioning

confidence: 99%

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

et al. 2003

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Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is a genetically heterogeneous developmental disorder. The X-linked form of AAS has been ascribed to mutations in the FGD1 gene. However, although AAS may be considered as a relatively frequent clinical diagnosis, mutations have been established in few patients. Genetic heterogeneity and the clinical overlap with a number of other syndromes might explain this discrepancy. In this study, we have conducted a single-strand conformation polymorphism (SSCP) analysis of the entire coding region of FGD1 in 46 AAS patients and identified eight novel mutations, including one insertion, four deletions and three missense mutations (19.56% detection rate). One mutation (528insC) was found in two independent families. The mutations are scattered all along the coding sequence. Phenotypically, all affected males present with the characteristic AAS phenotype. FGD1 mutations were not associated with severe mental retardation. However, neuropsychiatric disorders, mainly behavioural and learning problems in childhood, were observed in five out of 12 mutated individuals. The current study provides further evidence that mutations of FGD1 may cause AAS and expands the spectrum of disease-causing mutations. The importance of considering the neuropsychological phenotype of AAS patients is discussed.

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Section: Introductionmentioning

confidence: 99%

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

et al. 2003

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“…1,2 Minor anomalies and/or malformations usually affect the midline and the urogenital system (hypertelorism, umbilical hernia, shawl scrotum, hypospadias, undescended testes), while dysplastic changes involve the skeleton, resulting in vertebral and phalangeal defects and shortness of stature. The syndrome was first described at the Third Conference (1970) on the Clinical Delineation of Birth Defects by Aarskog 3 and Scott 4 in two different families with multiple affected males.…”

Section: Introductionmentioning

confidence: 99%

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

et al. 2000

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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.

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“…He was noted to have hypertelorism and a shawl scrotum and was investigated for congenital syndromes, including Aarskog's syndrome 9. Cytogenetic testing did not elicit any chromosomal abnormality.…”

Section: Case Presentationmentioning

confidence: 99%

An unusual suspect causing behavioural problems and pituitary failure in a child

2012

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A 9-year-old boy presented with feeding and behavioural problems and was diagnosed with Autistic Spectrum Disorder and Attention Deficit Hyperactivity Disorder. By age 11 he was becoming increasingly disinhibited and was refusing almost all oral food intake. Believing the cause to be psychogenic, he was placed in an inpatient eating disorder facility. After 3 days of continuous vomiting and minimal intake, he was admitted back to hospital for further investigations. A hypovolaemic hypernatraemia prompted an MRI brain scan, revealing several tumour masses with suprasellar and pituitary involvement. Histological investigation revealed primary, non-malignant germ-cell tumours. The tumours were treated with craniopharyngeal radiotherapy and permanent pituitary hormone replacement. BACKGROUND

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Aarskog syndrome.

Cited by 48 publications

References 17 publications

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

An unusual suspect causing behavioural problems and pituitary failure in a child

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