Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype.

[This corrects the article DOI: 10.3389/fgene.2021.761264.].

Consents or waivers of responsibility? Parents' information in NICU.

BACKGROUND: Informing the patient is a base of modern medicine; nonetheless, a great discrepancy exists between hospitals on the way this information should be administered. This is particularly important when the patient are babies: the information should be given to their parents who should approve or disapprove the treatment. Aim of this study is to assess the adequacy of the information administered to the parents of babies admitted into the Neonatal Intensive Care Units. METHODS: We analyzed the consent forms of center-north Italy NICUs. To this aim, we assessed if the forms had acceptable length and other features; we then asked some volunteers to simulate an information process and to score the forms for their easiness, comprehensibility and explicability to others. RESULTS: Twenty-one NICUs accepted to participate. Only 7 out of 21 had an adequate information form; the other 14 could be described as "waiver of responsibility" (WOR), because they were too prolix and contained too many hypothetical procedures. The overall level of easiness, comprehensibility and explicability to others was suboptimal, being lower in those forms we defined WOR. CONCLUSIONS: The results are far to be optimal. More care should be devoted to the process of informing parents at the admission into the NICU: an information overload should be avoided and information should be tailored on the baby's state. Further analysis should be devoted to whether the use of WOR is routine in other countries.

Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype.

Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in XYLT2 gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phenotypic variability. It is characterized by bone abnormalities (osteoporosis, fractures), eye and cardiac defects, hearing impairment, and varying degrees of developmental delay. Until now only 20 mutated individuals have been reported worldwide. Here, we describe two siblings from consanguineous healthy parents in which a novel homozygous frameshift variant c.1586dup p(Thr530Hisfs*) in the XYLT2 gene was detected by exome sequencing (ES). The first patient (9 years) presented short stature with skeletal defects, long face, hearing loss and cataract. The second patient, evaluated at a few days of life, showed macrosomia, diffuse hypertrichosis on the back, overabundant skin in the retronucal area, flattened facial profile with drooping cheeks, elongated eyelid rims, wide and flattened nasal bridge and turned down corners of the mouth. During the prenatal period, high nuchal translucency and intestinal hyperechogenicity were observed at ultrasound. In conclusion, these two siblings with a novel pathogenic variant in XYLT2 further expand the clinical and mutational spectrum of SOS.