Cone‐rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: Report of a new case without nephronophtisis

A Case of Functional Growth Hormone Deficiency and Early Growth Retardation in a Child With IFT172 Mutations

“…Anterograde transport toward the ciliary tip is regulated by complexB,whichconsistsofapproximately14proteinsinclud-ing IFT172 (3,9). The responsiveness to rhGH therapy in our case and the fact that GHD has been reported in other cases with ciliopathies (6,7) suggests that optimal ciliary function may be necessary for optimal pituitary function and GH synthesis. Mouse models with IFT172 mutations exhibit structural brain abnormalities, suggesting that IFT172 has a critical function in brain development (11).…”

“…Another similar case with retinitis pigmentosa, GHD, and spondyloepiphyseal dysplasia but no renal disease has been reported (7). At age 6 years, he had an impaired GH response to glucagon stimulation and a low IGF-I but no pituitary abnormality on MRI and following rhGH therapy, his height SDs increased from Ϫ3 to Ϫ1.5 (7).…”

“…In all of these conditions, the combination of clinical characteristics has been attributed to dysfunctional primary cilia (7). Cilia are microtubule-based organelles that project from the surface of many cell types (8).…”

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

“…By contrast, there are several examples of RP associated with bony abnormalities including some for which the responsible gene is yet to be identified. 45,46 CRD and RP may be part of the same phenotypic spectrum of retinal degeneration. Mutations in certain genes have been reported to cause either phenotype.…”