Congenital cataract with LSS gene mutations: a new case report
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Xiaodan Chen
Abstract
Background:
Congenital cataract is one of the major causes of blindness and amblyopia in children. About one-third of the cases are inherited.
Case presentation:
We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (LSS) gene. These two mutations were inherited from the patient’s parents. Both mutations altered the amino acid coding, at highly conserved amino acid residues.
Conclusions:
We concluded that the mutations affect the structural stability of the protein to some extent.
Acknowledgments
We would like to thank the staff of the Department of Endocrinology for the patient’s data.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
- Frontmatter
- Mini Review
- Severe complications after initial management of hyperglycemic hyperosmolar syndrome and diabetic ketoacidosis with a standard diabetic ketoacidosis protocol
- Original Articles
- Markers influencing the presence of partial clinical remission in patients with newly diagnosed type 1 diabetes
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- The relationship between non-alcoholic fatty liver disease and small intestinal bacterial overgrowth among overweight and obese children and adolescents
- High attainment of optimal nutritional and growth status observed among Greek pediatric cystic fibrosis patients: results from the GreeCF study
- Secular trends in height, weight and body mass index of primary school children in Turkey between 1993 and 2016
- Effects of 1-year growth hormone replacement therapy on thyroid volume and function of the children and adolescents with idiopathic growth hormone deficiency
- Thyroid hormone levels in late preterm, early term and term infants: a study with healthy neonates revealing reference values and factors affecting thyroid hormones
- Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty
- Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families
- Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia
- Case Reports
- Sirolimus precipitating diabetes mellitus in a patient with congenital hyperinsulinaemic hypoglycaemia due to autosomal dominant ABCC8 mutation
- Persistent de Quervain tenosynovitis induced by somatotropin treatment
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- Congenital cataract with LSS gene mutations: a new case report
