Jul 02, 2020
The FLG gene codes for the filament aggregating protein (filaggrin) which is found in the epidermis. It is important for epidermal differentiation and protecting the skin against water loss and the entry of allergens and infectious agents (Smith et al., 2006).
Homozygous changes in the FLG gene have been found in individuals with Ichthyosis vulgaris. Heterozygous changes in the FLG gene have been found in individuals with susceptibility to atopic dermatitis (OMIM).
Changes in the FLG gene were identified in two UDN participants.
Participant 064, a 12-year-old male with arthrogryposis multiplex congenita, low muscle tone (muscle hypotonia), and low bone density (osteopenia) was found to carry the following genetic change in the FLG gene: c.7339C>T / p.Arg2447Ter (position: chr1: 152280023, transcript: NM_002016.1). Research is underway to determine if this change is causing the participant’s symptoms.
Participant 165, a 48-year-old female with itchy skin inflammation (atopic dermatitis) and allergies was found to carry the following genetic change in the FLG gene: c.1501C>T / p.Arg501Ter (position: chr1:152285861, transcript: NM_002016.1). The inheritance pattern for this change is autosomal dominant. Clinicians and researchers believe this change is causing the participant’s symptoms.
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