Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations. (12th June 2013)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: Clinical genetics. Volume 85:Number 5(2014:May)
• Page Start: 476
• Page End: 481
• Publication Date: 2013-06-12
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12198
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12198-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12198-para-0001">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 <italic>LZTFL1</italic> 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 <italic>LZTFL1</italic> mutations in BBS patients confirming <italic>LZTFL1</italic> as a BBS gene. Interestingly, the only two families reported in literature thus far with <italic>LZTFL1</italic> 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 <italic>LZTFL1</italic> (<italic>BBS17</italic>).</p> </abstract>