A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report.

ABSTRACT:

Background

Spondylocostal dysostosis 4 (SCDO4) is characterized by short stature (mainly short trunk), dyspnea, brain meningocele, and spina bifida occulta, which is caused by homozygous or compound heterozygous HES7 (HES family bHLH transcription factor 7) variants. The incidence of SCDO4 remains unknown due to the extremely low number of cases. This study reveals a novel homozygous HES7 splicing variant causing SCDO4 and reviews all the previously reported HES7 variants and corresponding symptoms, providing a comprehensive overview of the phenotypes and genotypes of HES7 variants.

Case presentation

This case report focuses on a Chinese neonate who was first hospitalized for tachypnea, cleft palate, and short trunk. After a series of auxiliary ex

SUBMITTER: Lv S 

PROVIDER: S-EPMC10485611 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature