Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital

Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features

Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review


  1. Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study

    Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

  2. Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome

    Publikation: Bidrag til tidsskriftLetterpeer review

  1. Three novel FHL1 Variants cause a mild Phenotype of Emery-Dreifuss Muscular Dystrophy

    Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

  2. Causes of symptom dissatisfaction in patients with generalized myasthenia gravis

    Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

  3. High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1

    Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

Vis graf over relationer

Aarskog-Scott syndrome (AAS) is a developmental disorder, caused by disease-causing hemizygous variants in the FGD1 gene. AAS is characterized by dysmorphic features, genital malformation, skeletal anomalies, and in some cases, intellectual disability and behavioral difficulties. Myopathy has only been reported once in two affected siblings diagnosed with AAS. Only few adult cases have been reported. This article reports four adults with AAS (three male cases and one female carrier) from two unrelated Danish families, all males presented with variable features suggestive of myopathy. All four carried novel hemizygous pathogenic variants in the FGD1 gene; one family presented with the c.2266dup, p.Cys756Leufs*19 variant while the c.527dup; p.Leu177Thrfs*40 variant was detected in the second family. All males had some mild myopathic symptoms or histological abnormalities. Case 1 had the most severe myopathic phenotype with prominent proximal muscular fatigue and exercise intolerance. In addition, he had multiple deletions of mtDNA and low respiratory chain activity. His younger nephew, case 3, had difficulties doing sports in his youth and had a mildly abnormal muscle biopsy and relatively decreased mitochondrial enzyme activity. The singular case from family 2 (case 4), had a mildly myopathic muscle biopsy, but no overt myopathic symptoms. Our findings suggest that myopathic involvement should be considered in AAS.

TidsskriftAmerican Journal of Medical Genetics. Part A
Udgave nummer7
Sider (fra-til)2251-2257
Antal sider7
StatusUdgivet - jul. 2022

Bibliografisk note

© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

ID: 79164078