Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals with intellectual disability and microcephaly from four unrelated families with parental consanguinity. In the affected individuals of each family, homozygosity for likely pathogenic variants in KIF14 were detected; two loss-of-function (p.Asn83Ilefs*3 and p.Ser1478fs), and two missense substitutions (p.Ser841Phe and p.Gly459Arg). KIF14 is a mitotic motor protein that is required for spindle localization of the mitotic citron rho-interacting kinase, CIT, also mutated in microcephaly. Our results demonstrate the involvement of KIF14 in development and reveal a wide phenotypic variability ranging from fetal lethality to moderate developmental delay and microcephaly

Supplementary Material for: Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome

<p>Aicardi syndrome (AS) is a well-characterized neurodevelopmental disorder with an unknown etiology. In this study, we performed whole-exome sequencing in 11 female patients with the diagnosis of AS, in order to identify the disease-causing gene. In particular, we focused on detecting variants in the X chromosome, including the analysis of variants with a low number of sequencing reads, in case of somatic mosaicism. For 2 of the patients, we also sequenced the exome of the parents to search for de novo mutations. We did not identify any genetic variants likely to be damaging. Only one single missense variant was identified by the de novo analyses of the 2 trios, and this was considered benign. The failure to identify a disease gene in this study may be due to technical limitations of our study design, including the possibility that the genetic aberration leading to AS is situated in a non-exonic region or that the mutation is somatic and not detectable by our approach. Alternatively, it is possible that AS is genetically heterogeneous and that 11 patients are not sufficient to reveal the causative genes. Future studies of AS should consider designs where also non-exonic regions are explored and apply a sequencing depth so that also low-grade somatic mosaicism can be detected.</p><br

Efeitos de reguladores vegetais no desenvolvimento e na produtividade do amendoinzeiro (Arachis hypogaea L.) Effects of growth regulators on groundnut development (Arachis hypogaea L.)

O trabalho foi realizado com o objetivo de determinar a ação de substâncias de crescimento no desenvolvimento e produtividade do amendoinzeiro, sob condições de casa de vegetação. Plantas de Arachis hypogaea cv. Tatu-53, providas de 4 folhas definitivas, foram pulverizadas com chlormequat 2000 ppm, daminozide 4000 ppm, ácido giberélico 100 ppm, ácido indolilacético 100 ppm, além do controle. Foram determinados: altura das plantas, número de hastes, número de entrenós, comprimento do segundo e quarto entrenós, e o número de folhas. Também foram verificados os números de flores, de frutos e de sementes; peso dos frutos, das sementes, da matéria seca da parte aérea e da matéria seca das raízes do amendoinzeiro. Os resultados obtidos revelaram que daminozide 4000 ppm reduziu a altura, o número de entrenós na haste principal e o comprimento do quarto entrenó. Este produto também aumentou o número de folhas, atrasou a florescência, aumentou o número de flores e tendeu a aumentar o peso seco da parte aérea do amendoinzeiro. Pulverização com chlormequat 2000 ppm e ácido indolilacético 100 ppm, diminuiu a altura da planta e o comprimento do quarto entrenó da haste principal do amendoinzeiro.<br>This research deals with the effects of plant growth regulators on groundnut growth (Arachis hypogaea L. cv. Tatu-53). Plants of groundnut with four leaves grown in pots under greenhouse conditions, were sprayed with chlormequat 2000 ppm, daminozide 4000 ppm, gibberellic acid 100 ppm, indolylacetic acid 100 ppm, mid check treatment. Daminozide 4000 ppm reduced plant height, internode number and the length of the fourth internode. Daminozide increased the number of leaves, retarded flowering, increased the number of flowers and presented a tendency to increase the dry weight of stems. Chlormequat 2000 ppm and indolylacetic acid 100 ppm reduced plant height and the lenght of the fourth internode of the groundnut plant stem