title: A novel mutation of laminin β-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period.
abstract: Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. It is caused by a homozygous or compound heterozygous mutation in the gene encoding laminin beta2 (LAMB2) on chromosome 3p21. In this article, we report on a patient with CNS, bilateral megalocornea and microcoria. The patient had developed renal failure at very early postnatal period and died of septic shock. A novel homozygous donor splice mutation (IVS4 + 2T > C) in LAMB2 gene was identified in the patient.
authors.affiliation: Departmentof Neonatology, Dr Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey.
authors.forename: B
authors.initials: B
authors.lastname: Aydin
authors.forename: M S
authors.initials: MS
authors.lastname: Ipek
authors.forename: F
authors.initials: F
authors.lastname: Ozaltin
authors.forename: A
authors.initials: A
authors.lastname: Zenciroğlu
authors.forename: D
authors.initials: D
authors.lastname: Dilli
authors.forename: S
authors.initials: S
authors.lastname: Beken
authors.forename: N
authors.initials: N
authors.lastname: Okumuş
authors.forename: N
authors.initials: N
authors.lastname: Hoşağasi
authors.forename: B
authors.initials: B
authors.lastname: Saygili-Karagöl
authors.forename: A
authors.initials: A
authors.lastname: Kundak
authors.forename: R
authors.initials: R
authors.lastname: Renda
authors.forename: O
authors.initials: O
authors.lastname: Aydog
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007797:Laminin / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital; D009404:Nephrotic Syndrome / Q000235:genetics*; D011681:Pupil Disorders / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics
chemical_list: D007797:Laminin; C058783:laminin beta2