Table 4

Report of major BBS clinical features in the 38 patients without previously known molecular diagnosis, with or without detected mutations

Retinitis pigmentosaObesityPolydactylyBrachydactylyHypogonadismCystic kidneyMild intellectual disabilities
2 BBS mutations95.65% (22/23)86.96% (20/23)69.57% (16/23)43.48% (10/23)39.13% (9/23)21.74% (5/23)73.91% (17/23)
2 ALMS1 mutations3/31/3 (AIA84)0/32/3 (AIA84, AKO26)2/3 (AIA84, AKO26)1/3 (ALB64)2/3 (AIA84, AKO26)
0 or 1 mutation81.82% (9/11)81.82% (9/11)25.00% (3/12)33.33% (4/12)41.67% (5/12)50% (5/10)81.82% (9/11)
  • ALMS1 patients: AIA84 was addressed to Strasbourg Diagnostic Laboratory for Bardet–Biedl or Prader-Willi syndromes, AKO26 for suggestive BBS or ALMS with abnormal cognitive defects and ALB64 for a syndromic retinal dystrophy or suggested ALMS. Patients with a proposed Alström syndrome presented with early deafness: at 5 (ALB64) or 6 (AKO26) years of age.