Expanding the phenotype ofSTRA6‐related disorder to include left ventricular non‐compaction
| Autor: | Lu Han, Hairui Sun, Shaomei Yu, Hongjia Zhang, Yihua He, Xiaoxue Zhou |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Lung Diseases 0301 basic medicine Aortic arch Pathology medicine.medical_specialty lcsh:QH426-470 030105 genetics & heredity Clinical Reports Matthew‐Wood syndrome 03 medical and health sciences Pulmonary hypoplasia symbols.namesake Pregnancy medicine.artery Genetics medicine Humans Microphthalmos STRA6 Molecular Biology Genetics (clinical) Sanger sequencing syndromic microphthalmia‐9 Clinical Report Isolated Noncompaction of the Ventricular Myocardium Anophthalmia business.industry Pulmonary Agenesis Anophthalmos Membrane Proteins Syndrome Interrupted aortic arch type A Aplasia medicine.disease eye diseases anophthalmia/microphthalmia Fetal Diseases lcsh:Genetics Phenotype 030104 developmental biology left ventricular non‐compaction symbols Female business Matthew Wood syndrome |
| Zdroj: | Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020) Molecular Genetics & Genomic Medicine |
| ISSN: | 2324-9269 |
| DOI: | 10.1002/mgg3.1377 |
| Popis: | Background Syndromic microphthalmia‐9 (MCOPS9) is a rare autosomal recessive disorder caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. This disorder is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The clinical characteristics of this disorder have not been fully determined because of the rarity of clinical reports. Methods A comprehensive genotyping examination including copy number variation sequencing (CNV‐Seq) and whole‐exome sequencing (WES) was applied to a fetus of Han Chinese with bilateral anophthalmia, bilateral pulmonary agenesis, interrupted aortic arch type A, and left ventricular non‐compaction (LVNC). Results No aneuploidy or pathogenic CNV were identified by CNV‐seq. WES analysis revealed a previously reported homozygous splice site (NM_022369.4:c.113+3_113+4del) in the STRA6 gene. This variant was confirmed by Sanger sequencing. The diagnosis of MCOPS9 was confirmed given the identification of the STRA6 mutation and the association of bilateral anophthalmia, pulmonary agenesis, and cardiac malformations. Conclusion This case adds to the phenotypic spectrum of MCOPS9, supporting the association with LVNC, and the presence of interruption of aortic arch further demonstrates the variability of the cardiac malformations. We describe a fetus with bilateral anophthalmia, bilateral pulmonary agenesis, interrupted aortic arch type A and left ventricular non‐compaction (LVNC) who was found to have a homozygous splicing variant in the STRA6 gene. This case adds to the phenotypic spectrum of STRA6‐related disorder, supports the association with LVNC, and suggests that the mutation herein reported may be a hotspot in STRA6. |
| Databáze: | OpenAIRE |
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