1. Pierson Syndrome: A Case Report with a Neonatal Cardiac Association Based on a Novel Mutation in the LAMB2 Gene

Pierson Syndrome: A Case Report with a Neonatal Cardiac Association Based on a Novel Mutation in the LAMB2 Gene

Hussain Parappil, MD 1 Arif Ali 1 Faraz Masud 1 Anant Pai 2, 1 Nahid Nahavandi 3 Prof. Arndt Rolfs, MD 3, 4 Abubakr Imam 1 Afaf Shaddad 1 Ashraf Mansour, PhD 1, 2
1 Hamad Medical Corporation 2 Cornell University 3 CENTOGENE AG 4 University of Rostock
January 04, 2015

Gene. J Clin Neonatol 0;0:0 DOI: 10.4103/2249-4847.165699

Abstract: Congenital nephrotic syndrome (CNS) combined with eye abnormalities including microcoria (small pupils that don’t respond to light) and abnormal lens shape can suggest a clinical diagnosis of Pierson syndrome (which mainly affects the kidneys and eyes). Mutations in the genes NPHS1, NPHS2, and WT1 are known to account for the majority of CNS cases, whereas a definitive diagnosis of Pierson syndrome can be established by the detection of a causative mutation in both copies of a patient’s LAMB2 gene (encoding laminin β2). CNS can manifest in utero (ultrasound may reveal hyperechogenic kidneys and oligohydramnios), or during the first 3 months of life. Pierson syndrome is an autosomal recessive disorder comprised of CNS and distinct ocular abnormalities. The prognosis of this extremely rare disorder is very poor, with the most babies developing end‑stage renal disease. Those who do survive tend to show the neurodevelopmental delay and visual loss. We report a case of neonatal Pierson syndrome in conjunction with complex cyanotic cardiac disease in which a novel homozygous mutation in the LAMB2 gene was detected. The clinical association of Pierson syndrome with heart manifestation is a novel finding, reported here for the 1st time.