Novel variant of COL12A1 gene causing neonatal hypotonia and respiratory failure.

The COL12A1 gene encodes Collagen XII α 1 chain, forming a biologically functional Collagen XII through a trimeric structure. Collagen XII dysfunction can lead to hereditary neuromuscular diseases with phenotypic profiles ranging from rare Ullrich congenital muscular dystrophy 2 (biallelic variant) to Bethlem myopathy 2 (uniallelic variant). Currently, only 29 COL12A1 deficiency cases have been reported, mainly featuring hypotonia, progressive muscular dystrophy, and skeletal deformities.

[Chest computed tomography manifestations in neonates with chronic granulomatous disease].

Objectives: To study chest computed tomography (CT) manifestations in neonates with chronic granulomatous disease (CGD) to provide clues for early diagnosis of this disease.

Methods: A retrospective analysis was conducted on the clinical data and chest CT scan results of neonates diagnosed with CGD from January 2015 to December 2022 at Anhui Provincial Children's Hospital.

Results: Nine neonates with CGD were included, with eight presenting respiratory symptoms as the initial sign.