Journal article
Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene
Progress in pediatric cardiology, Vol.64, 101443
03/2022
DOI: 10.1016/j.ppedcard.2021.101443
Abstract
Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management.
Syndromic Microphthalmia 9, a rare & fatal genetic condition characterized by anophthalmia, pulmonary hypoplasia, congenital cardiac defects, and severe pulmonary hypertension.
•Syndromic Microphthalmia 9 (MCOPS 9) is a rare autosomal recessive condition due to mutations in STRA 6 on chromosome 15.•Phenotype include pulmonary hypoplasia, diaphragmatic hernia, anophthalmia/microphthalmia, congenital cardiac defects.•Prognosis is poor due to severe pulmonary hypertension.•Rapid whole-genome sequencing is a novel tool to accomplish a prompt diagnosis.
Details
- Title: Subtitle
- Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene
- Creators
- Ashish Saini - Miami Children's HospitalSaleem Almasarweh - Miami Children's HospitalStephanie A Acosta - University of Iowa, Stead Family Department of PediatricsParul Jayakar - Miami Children's HospitalMichelin Janvier - Miami Children's HospitalTerence C. Wong - Children’s InstituteDaria Salyakina - Personalized Medicine and Health Outcomes, Research Institute, Nicklaus Children's Hospital, Miami, FL, United States of AmericaJun Sasaki - Miami Children's Hospital
- Resource Type
- Journal article
- Publication Details
- Progress in pediatric cardiology, Vol.64, 101443
- Publisher
- Elsevier B.V
- DOI
- 10.1016/j.ppedcard.2021.101443
- ISSN
- 1058-9813
- eISSN
- 1558-1519
- Language
- English
- Date published
- 03/2022
- Academic Unit
- Stead Family Department of Pediatrics; Cardiology
- Record Identifier
- 9984631051102771
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