A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2-related congenital adrenal hyperplasia.

Trio exome sequencing was performed on a fetus with bilateral mesomelia of the lower limbs with significant angulation of the tibial bones, micrognathia and hypertelorism detected on ultrasound scan at 19 + 0 weeks gestation. The couple is consanguineous. A homozygous pathogenic frameshift variant in the SMOC1 gene (c.339_340del p.(Phe114Cysfs*40)) was detected and both parents were shown to be heterozygous. Pathogenic variants in the SMOC1 gene are associated with microphthalmia with limb anomalies which multidisciplinary team discussion determined to be causal of the scan anomalies detected. The fetus was also a compound heterozygote for CYP21A2 pathogenic variants, confirming a second diagnosis of non-classical congenital adrenal hyperplasia, which was felt incidental to the scan findings. The risk that this couple's next pregnancy would be affected by either of these disorders is 1 in 4 (25%) and demonstrates the importance of genetic diagnoses for the family and implications for future pregnancies.

Stripes within words affect reading.

In a series of eight studies it is shown that the first peak in the horizontal autocorrelation of the image of a word (which captures the similarity in shape between the neighbouring strokes of letters) determines (i) the appearance of the words as striped; (ii) the speed with which the words are read, both aloud and silently; and (iii) the speed with which a paragraph of text can be searched. By subtly distorting the horizontal dimension of text, and thereby reducing the first peak in the horizontal autocorrelation, it is shown that the speed of word recognition can be increased. The increase in speed is greater in poor readers.