> Details

Mendelsohn, Bryce A.; Beleford, Daniah T.; Abu‐El‐Haija, Aya; Alsaleh, Norah S.; Rahbeeni, Zuhair; Martin, Pierre‐Marie; Rego, Shannon; Huang, Alyssa; Capodanno, Gina; Shieh, Joseph T.; Van Ziffle, Jessica; Risch, Neil; Alkuraya, Fowzan S.; Slavotinek, Anne M.

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy

Reference
management

Bookmarks

Remove from
bookmarks

Share this on Whatsapp

Close

Bookmarks



You can manage bookmarks using lists, please log in to your user account for this.
  • Media type: E-Article
  • Title: A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy
  • Contributor: Mendelsohn, Bryce A.; Beleford, Daniah T.; Abu‐El‐Haija, Aya; Alsaleh, Norah S.; Rahbeeni, Zuhair; Martin, Pierre‐Marie; Rego, Shannon; Huang, Alyssa; Capodanno, Gina; Shieh, Joseph T.; Van Ziffle, Jessica; Risch, Neil; Alkuraya, Fowzan S.; Slavotinek, Anne M.
  • imprint: Wiley, 2020
  • Published in: American Journal of Medical Genetics Part A
  • Language: English
  • DOI: 10.1002/ajmg.a.61450
  • ISSN: 1552-4825; 1552-4833
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p>We describe an 11‐year old boy with severe global developmental delays, failure to thrive and growth retardation, refractory seizures with recurrent status epilepticus, hypogammaglobulinemia, hypergonadotropic hypogonadism, and duodenal strictures. He had facial and skin findings compatible with trichothiodystrophy, including sparse and brittle hair, thin eyebrows, and dry skin. Exome sequencing showed a hemizygous, truncating variant in <jats:italic>RNF113A</jats:italic>, c.903_910delGCAGACCA, predicting p.(Gln302fs*12), that was inherited from his mother. Although his clinical features overlap closely with features described in the two previously reported male first cousins with <jats:italic>RNF113A</jats:italic> loss of function mutations, the duodenal strictures seen in this patient have not been reported. Interestingly, the patient's mother had short stature and 100% skewed X‐inactivation as seen in other obligate female carriers. A second male with developmental delays, microcephaly, seizures, ambiguous genitalia, and facial anomalies that included sparse and brittle hair, thin eyebrows and dry skin was recently reported to have c.897_898delTG, predicting p.(Cys299*) in <jats:italic>RNF113A</jats:italic> and we provide additional clinical details for this patient. This report further supports deleterious variants in <jats:italic>RNF113A</jats:italic> as a cause of a novel trichothiodystrophy syndrome.</jats:p>