Targeted gene under study
RNF113A, OMIM#300953
Abstract
RNF113A is known to be associated in related X-linked trichothiodystrophy. The 5 males affected described in literature presented with global developmental delay / severe intellectual disability, microcephaly, cerebellar hypoplasia and abnormal corpus callosum, sparse and brittle hair with dry skin, and endocrine features associated with genital abnormalities. Female carriers were described with a 100% skewed XCI profile and short stature only.
We report the first female presenting with a pathogenic variant in RNF113A a spectrum of symptomatic X-linked trichothiodystrophy.
We wish to identify further individuals (females or males) with RNF113A variants to better define the phenotypic spectrum.
Coordinating clinicians/researchers
Marion AUBERT MUCCA – aubertmucca.m@chu-toulouse.fr
Olivier PATAT
Institution
Medical Genetics Department, Toulouse Hospital, Toulouse, France
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: Yes