In:
American Journal of Medical Genetics Part A, Wiley, Vol. 185, No. 6 ( 2021-06), p. 1875-1882
Kurzfassung:
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.
Materialart:
Online-Ressource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v185.6
DOI:
10.1002/ajmg.a.62168
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2021
ZDB Id:
1493479-6
SSG:
12
