Adult Presentation of X-Linked Conradi-Hünermann-Happle Syndrome
| Autor: | Lindsay C. Burrage, Jennifer E. Posey, Sandesh C.S. Nagamani, James T. Lu, Tanya N. Eble, Lisa E. Kratz, Alan E Schlesinger, Richard A. Gibbs, Philippe M. Campeau, Brendan Lee |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Adult
medicine.medical_specialty Chondrodysplasia Punctata Congenital ichthyosiform erythroderma Molecular Sequence Data Dwarfism Steroid Isomerases Short stature Article Cataract Cataracts Genes X-Linked Internal medicine Genetics medicine Humans Chondrodysplasia punctata Exome Family history Genetics (clinical) Exome sequencing Sequence Deletion Base Sequence business.industry Ichthyosis Genodermatosis Alopecia medicine.disease Dermatology Black or African American Endocrinology Female medicine.symptom business |
| Popis: | Conradi-Hünermann-Happle syndrome, or X-linked Dominant Chondrodysplasia Punctata Type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While typically lethal in males, females with CDPX2 generally manifest by infancy or childhood with variable features including congenital ichthyosiform erythroderma, chondrodysplasia punctata, asymmetric shortening of the long bones, and cataracts. We present a 36-year-old female with short stature, rhizomelic and asymmetric limb shortening, severe scoliosis, a sectorial cataract, and no family history of CDPX2. Whole exome sequencing (WES) revealed a p.Arg63del mutation in EBP, and biochemical studies confirmed a diagnosis of CDPX2. Short stature in combination with ichthyosis or alopecia, cataracts, and limb shortening in an adult should prompt consideration of a diagnosis of CDPX2. As is the case with many genetic syndromes, the hallmark features of CDPX2 in pediatric patients are not readily identifiable in adults. This case demonstrates the utility of WES as a diagnostic tool in the evaluation of adults with genetic disorders. |
| Databáze: | OpenAIRE |
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