Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Abstract

the Figure 1 legend unfortunately contained a few errors regarding the coloring of variants in Figure 1A. Nonsense truncating variants were incorrectly described as red, and frameshift truncating variants were incorrectly described as blue. The correct description appears below, in the print version of this paper, and online. The authors regret these errors.(A) CSPP1 schematic showing the coiled-coil domains (gray rectangles). Nonsense truncating variants (blue) are indicated above the protein at their approximate locations. Frameshift truncating variants (orange), variants affecting canonical splice sites (green), and a missense variant (a coding variant that results in a frameshift because of aberrant splicing; black; see Figure S1) are indicated below the protein. The number of times a specific variant was identified in the cohort is indicated in parentheses after the variant.

Joubert syndrome: genotyping a Northern European patient cohort

“…Taken together, it would seem that the Dutch population tends to have a relatively high contribution of C5orf42, possibly because of a Dutch founder mutation, and a low contribution of CEP290. CSPP1, anticipated to be mutated in 2-5% of JBS cases, 6,23 was not analyzed in our cohort and may yet resolve a few additional cases.…”

8q13.1-q13.2 Deletion Associated With Inferior Cerebellar Vermian Hypoplasia and Digital Anomalies: A New Syndrome?

“…Of these recently reported cases, all had missense or small insertion/deletion variations and there are no reported cases of large rearrangements such as whole-gene or exonic deletions. [12][13][14] In the first report, 12 five patients were reported from three families with hydranencephaly and occipital encephalocele being cranial features of the first family, with molar tooth sign and heterotopia featured in the second family, and with molar tooth sign and posterior fossa cyst features in the third family. Inferior vermis hypoplasia was a feature of the third child of the third family.…”

An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD)

“…The patient had a severe phenotype with encephalocele, optic atrophy, short ribs, bell-shaped chest, and pulmonary hypoplasia. 69 In two sibs with JBTS21 the compound heterozygous mutations in the CSPP1 gene: the c.2244_2245delAA deletion and the c.2280delA deletion were identified. The patients had a severe phenotype: feeding abnormalities, nystagmus, short ribs, bell-shaped chest, and pulmonary hypoplasia.…”