Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.

[This corrects the article DOI: 10.3389/fgene.2022.931833.].

Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.

Uniparental disomy (UPD) is a rare genetic event caused by errors during gametogenesis and fertilization leading to two copies of a chromosome or chromosomal region inherited from one parent. MixUPD is one type of UPD that contains isodisomic and heterodisomic parts because of meiotic recombination. Using whole-exome sequencing (WES), we identified the first case of ichthyosis due to a maternal mixUPD on chromosome 17, which results in a homozygous deletion of partial intron 8 to exon 10 in ALOX12B, being predicted to lead to an internal protein deletion of 97 amino acids. We also performed a retrospective analysis of 198 patients with ALOX12B mutations. The results suggested that the exon 9 and 10 are located in the mutational hotspots of ALOX12B. In addition, our patient has microtia and congenital stenosis of the external auditory canals, which is very rare in patients with ALOX12B mutations. Our study reports the first case of autosomal recessive congenital ichthyosis (ARCI) due to a mixUPD of chromosome 17 and expands the spectrum of clinical manifestations of ARCI caused by mutations in the ALOX12B gene.

A multicentre observational study on neonates exposed to SARS-CoV-2 in China: the Neo-SARS-CoV-2 Study protocol.

INTRODUCTION: An outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) occurred in Wuhan, China starting in December 2019. Yet the clinical features and long-term outcomes of neonates with SARS-CoV-2 exposure are lacking. The purpose of this study is to describe the clinical course and prognosis of the neonates exposed to SARS-CoV-2. METHODS AND ANALYSIS: This is a multicentre observational study conducted at the designated children and maternal and child hospitals in the mainland of China. Neonates exposed to SARS-CoV-2 infection will be recruited. The data to be collected via case report forms include demographic details, clinical features, laboratory and imaging results, as well as outcomes. Primary outcomes are the mortality of neonates with COVID-19 and SARS-CoV-2 infection of neonates born to mothers with COVID-19. Secondary outcomes are the birth weight, premature delivery and neurological development of neonates exposed to SARS-CoV-2. The neurological development is assessed by the Chinese standardised Denver Developmental Screening Test at the corrected age of 6 months. ETHICS AND DISSEMINATION: This study has been approved by the Children's Hospital of Fudan University ethics committee (No. (2020)31). The study findings will be disseminated in peer-reviewed journals and presented at national and international conferences in order to improve the understanding of the clinical course among neonates exposed to SARS-CoV-2 and to provide evidence-based treatment and prevention strategies for this group. TRIAL REGISTRATION NUMBER: NCT04279899.