A prenatally diagnosed case of Donnai‐Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity

• Published in: American journal of medical genetics. Part A Vol. 182; no. 2; pp. 289 - 292
• Main Authors: Ozdemir, Halis, Plamondon, Jenna, Gaskin, Peter, Asoglu, Mehmet R., Turan, Sifa
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01-02-2020; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - diagnostic imaging; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adult; Agenesis of Corpus Callosum - diagnosis; Agenesis of Corpus Callosum - diagnostic imaging; Agenesis of Corpus Callosum - genetics; Agenesis of Corpus Callosum - pathology; Agenesis of Corpus Callosum - therapy; Consanguinity; Corpus callosum; DNA microarrays; Donnai‐Barrow syndrome; Female; Fetuses; Hearing loss; Hearing Loss, Sensorineural - diagnosis; Hearing Loss, Sensorineural - diagnostic imaging; Hearing Loss, Sensorineural - genetics; Hearing Loss, Sensorineural - pathology; Hereditary diseases; Hernia; Hernias; Hernias, Diaphragmatic, Congenital - diagnosis; Hernias, Diaphragmatic, Congenital - diagnostic imaging; Hernias, Diaphragmatic, Congenital - genetics; Hernias, Diaphragmatic, Congenital - pathology; Homozygote; Humans; Infant; Infant, Newborn; Intellectual disabilities; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Intellectual Disability - pathology; Intellectual Disability - therapy; Loss of Function Mutation - genetics; Low Density Lipoprotein Receptor-Related Protein-2 - genetics; LRP2 protein; Myopia - diagnosis; Myopia - diagnostic imaging; Myopia - genetics; Myopia - pathology; prenatal diagnosis; Prenatal Diagnosis - methods; Proteinuria - diagnosis; Proteinuria - diagnostic imaging; Proteinuria - genetics; Proteinuria - pathology; Renal Tubular Transport, Inborn Errors - diagnosis; Renal Tubular Transport, Inborn Errors - diagnostic imaging; Renal Tubular Transport, Inborn Errors - genetics; Renal Tubular Transport, Inborn Errors - pathology; Ultrasonography; Ultrasound; whole exome sequencing (WES); Whole Exome Sequencing - methods; prenatal diagnosis; whole exome sequencing (WES); Donnai-Barrow syndrome
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.61428

Donnai‐Barrow syndrome (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and hearing loss, intellectual disability, agenesis of the corpus callosum (ACC), congenital diaphragmatic hernia (CDH), and omphalocele. This condition is associated with loss‐of‐function mutations in the LRP2 gene. Few cases have been described in the literature. In our case, CDH and ACC were prenatally diagnosed by ultrasound, and the fetus was the product of a first‐degree union. Single‐nucleotide polymorphism‐microarray showed large regions of homozygosity. Whole exome sequencing (WES) was performed and revealed a homozygous frameshift pathogenic variant in LRP2 (c.6978dupG). Here, we present a case of DBS, which diagnosed prenatally via WES in a fetus with CDH and ACC.