Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family.

The molecular defect of one large consanguineous Iranian kindred with Leber Congenital Amaurosis (LCA) is presented. The phenotype mapped to 17p13.1 (LCA1) and excluded from five other LCA loci.

Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.

Familial expansile osteolysis (FEO) is a rare disorder causing bone dysplasia. The clinical features of FEO include early-onset hearing loss, tooth destruction, and progressive lytic expansion within limb bones causing pain, fracture, and deformity. An 18-bp duplication in the first exon of the TNFRSF11A gene encoding RANK has been previously identified in four FEO pedigrees.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or small inframe deletions in FLNB, encoding the cytoskeletal protein filamin B. To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied.

Hereditary bilateral conductive hearing loss caused by total loss of ossicles: a report of familial expansile osteolysis.

Objective: The objective of this study was to report on three members of a family with familial expansile osteolysis; the important point about these patients was that none of them had middle-ear ossicles.

Study Design And Subjects: A retrospective case review including three cases with familial expansile osteolysis.

Setting: Department of Otolaryngology in a tertiary referral center.