| Autor: |
Schaefer, E., Lauer, J., Durand, M., Pelletier, V., Obringer, C., Claussmann, A., Braun, J.‐J., Redin, C., Mathis, C., Muller, J., Schmidt‐Mutter, C., Flori, E., Marion, V., Stoetzel, C., Dollfus, H. |
| Předmět: |
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| Zdroj: |
Clinical Genetics; May2014, Vol. 85 Issue 5, p476-481, 6p |
| Abstrakt: |
Ciliopathies are heterogeneous disorders sharing different clinical signs due to a defect at the level of the primary cilia/centrosome complex. Postaxial polydactyly is frequently reported in ciliopathies, especially in Bardet-Biedl syndrome ( BBS). Clinical features and genetic results observed in a pair of dizygotic twins with BBS are reported. The following manifestations were present: retinitis pigmentosa, bilateral insertional polydactyly, cognitive impairment and renal dysfunction. X-rays of the hands confirmed the presence of a 4th mesoaxial extra-digit with Y-shaped metacarpal bones. The sequencing of LZTFL1 identified a missense mutation (NM_020347.2: p. Leu87Pro; c.260T>C) and a nonsense mutation (p.Glu260*; c. 778G>T), establishing a compound heterozygous status for the twins. A major decrease of LZTFL1 transcript and protein was observed in the patient's fibroblasts. This is the second report of LZTFL1 mutations in BBS patients confirming LZTFL1 as a BBS gene. Interestingly, the only two families reported in literature thus far with LZTFL1 mutations have in common mesoaxial polydactyly, a very uncommon feature for BBS. This special subtype of polydactyly in BBS patients is easily identified on clinical examination and prompts for priority sequencing of LZTFL1 ( BBS17). [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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