| Autor: |
Cappuccio, Gerarda, Brillante, Simona, Tammaro, Roberta, Pinelli, Michele, De Bernardi, Margherita Lucia, Gensini, Maria Grazia, Bijlsma, Emilia K., Koopmann, Tamara T., Hoffer, Mariette J. V., McDonald, Kimberly, Hendon, Laura G., Douzgou, Sofia, Deshpande, Charulata, D'Arrigo, Stefano, Torella, Annalaura, Nigro, Vincenzo, Franco, Brunella, Brunetti‐Pierri, Nicola |
| Zdroj: |
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics; March 2022, Vol. 190 Issue: 1 p102-108, 7p |
| Abstrakt: |
Biallelic loss‐of‐function (LoF) variants in CENPFgene are responsible for Strømme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four individuals (three males and one female) carrying CENPFbiallelic variants, including two missense variants in homozygous state and four LoF variants, were identified by exome sequencing. All individuals had variable degree of developmental delay/intellectual disability and microcephaly (ranging from −2.9 SDS to −5.6 SDS) and a recognizable pattern of dysmorphic facial features including inverted‐V shaped interrupted eyebrows, epicanthal fold, depressed nasal bridge, and pointed chin. Although one of the cases had duodenal atresia, all four individuals did not have the combination of internal organ malformations of Strømme syndrome (intestinal atresia and anterior eye segment abnormalities). Immunofluorescence analysis on skin fibroblasts on one of the four cases with the antibody for ARL13B that decorates primary cilia revealed shorter primary cilia that are consistent with a ciliary defect. This case‐series of individuals with biallelic CENPFvariants suggests the spectrum of clinical manifestations of the disorder that may be related to CENPFvariants is broad and can include phenotypes lacking the cardinal features of Strømme syndrome. |
| Databáze: |
Supplemental Index |
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