Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype

Autor:	Agata Oliwa, Shuko Joseph, Eoghan Millar, Iain Horrocks, Dawn Penman, Julia Baptista, Thomas Cullup, Panayiotis Constantinou, Anne-Marie Heuchan, Ruth Hamilton, Cheryl Longman
Rok vydání:	2022
Předmět:	Muscular Atrophy Spinal Phenotype Lower Extremity Neurology Pregnancy Humans Evoked Potentials Visual Female Neurology (clinical) Spinal Muscular Atrophies of Childhood Microtubule-Associated Proteins Cataract
Zdroj:	Journal of Neuromuscular Diseases. 9:803-808
ISSN:	2214-3602 2214-3599
DOI:	10.3233/jnd-220818
Popis:	This case report describes a girl who presented antenatal arthrogryposis and postnatal hypotonia, generalized and respiratory weakness, joint deformities particularly affecting the lower limbs and poor swallow. By 5 months, cataracts, abnormal electroretinograms, visual evoked potentials (VEPs) and global developmental impairments were recognized. No causative variants were identified on targeted gene panels. After her unexpected death at 11 months, gene-agnostic trio whole exome sequencing revealed a likely pathogenic de novo BICD2 missense variant, NM_001003800.1, c.593T>C, p.(Leu198Pro), confirming the diagnosis of spinal muscular atrophy lower extremity predominant type 2 (SMA-LED2). We propose that cataract, abnormal electroretinograms and VEPs are novel features of SMA-LED2.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efa75f25cb01eb062784ba020564f380 https://doi.org/10.3233/jnd-220818 Zobrazit plný text záznamu