AI Article Synopsis
- - Trichothiodystrophy is a rare genetic disorder characterized by abnormal hair development and affects multiple body systems; this study focuses on two Finnish families with this condition.
- - The researchers identified a new mutation in the MPLKIP gene through whole-exome sequencing, confirming the diagnosis of non-photosensitive trichothiodystrophy type 4 (TTD4) in three patients.
- - This report enhances understanding of TTD4 by detailing the patients' unique physical traits and comparing their clinical features with previously documented cases.
Article Abstract
Trichothiodystrophy is a group of multisystem neuroectodermal disorders with dysplastic hair as the cardinal symptom. We describe three patients from two Finnish families in whom whole-exome sequencing revealed a novel homozygous variant, c.26del, p.(Pro9Glnfs*144) in the MPLKIP-gene, confirming the diagnosis of non-photosensitive trichothiodystrophy type 4 (TTD4). The variant was confirmed by Sanger sequencing and inherited from unaffected carrier parents. This report adds to the literature by expanding the genetic and phenotypic spectra of MPLKIP-related trichothiodystrophy. We describe dysmorphic features in the patients and provide a comparison of clinical characteristics in patients with TTD4 reported to date.
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| http://dx.doi.org/10.1002/ajmg.a.62168 | DOI Listing |
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