ArticleAmerican journal of medical genetics. Part A2020
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 19 citations in OpenAlex.
- Twins With PathogenicJCEM case reports · 2026Article
- The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.Molecular genetics & genomic medicine · 2024Article
- A functional link between lariat debranching enzyme and the intron-binding complex is defective in non-photosensitive trichothiodystrophy.Molecular cell · 2023Article
- Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.NPJ genomic medicine · 2023Article
- Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.Genome medicine · 2022Article
- Predicting genes from phenotypes using human phenotype ontology (HPO) terms.Human genetics · 2022Article
- De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.American journal of medical genetics. Part A · 2022Article
- Exome Sequencing Identifies a NovelMolecular syndromology · 2022Article
- Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.European journal of medical genetics · 2022Article
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14 authors at 4 institutions in 3 countries.
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Abstract
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 RNF113A, 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 RNF113A 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 RNF113A and we provide additional clinical details for this patient. This report further supports deleterious variants in RNF113A as a cause of a novel trichothiodystrophy syndrome.
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