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
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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