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

Agata Oliwa; Shuko Joseph; Eoghan Millar; Iain Horrocks; Dawn Penman; Julia Baptista; Thomas Cullup; Panayiotis Constantinou; Anne Marie Heuchan; Ruth Hamilton; Cheryl Longman

doi:10.3233/jnd-220818

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

Agata Oliwa^*, Shuko Joseph, Eoghan Millar, Iain Horrocks, Dawn Penman, Julia Baptista, Thomas Cullup, Panayiotis Constantinou, Anne Marie Heuchan, Ruth Hamilton, Cheryl Longman

^*Corresponding author for this work

Peninsula Medical School

Research output: Contribution to journal › Article › peer-review

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Abstract

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 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 cataracts and abnormal electroretinograms are novel features of SMA-LED2.

Original language	English
Pages (from-to)	1-6
Number of pages	0
Journal	Journal of Neuromuscular Diseases
Volume	0
Issue number	0
Early online date	1 Sept 2022
DOIs	https://doi.org/10.3233/jnd-220818
Publication status	Published - 1 Sept 2022

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10.3233/jnd-220818

BICD2 case report accepted

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

abstract = "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 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 cataracts and abnormal electroretinograms are novel features of SMA-LED2.",

author = "Agata Oliwa and Shuko Joseph and Eoghan Millar and Iain Horrocks and Dawn Penman and Julia Baptista and Thomas Cullup and Panayiotis Constantinou and Heuchan, {Anne Marie} and Ruth Hamilton and Cheryl Longman",

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T1 - Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype

AU - Oliwa, Agata

AU - Joseph, Shuko

AU - Millar, Eoghan

AU - Horrocks, Iain

AU - Penman, Dawn

AU - Baptista, Julia

AU - Cullup, Thomas

AU - Constantinou, Panayiotis

AU - Heuchan, Anne Marie

AU - Hamilton, Ruth

AU - Longman, Cheryl

PY - 2022/9/1

Y1 - 2022/9/1

N2 - 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 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 cataracts and abnormal electroretinograms are novel features of SMA-LED2.

AB - 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 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 cataracts and abnormal electroretinograms are novel features of SMA-LED2.

UR - https://pearl.plymouth.ac.uk/context/pms-research/article/1574/viewcontent/BICD2_case_report_accepted.pdf

U2 - 10.3233/jnd-220818

DO - 10.3233/jnd-220818

M3 - Article

SN - 2214-3599

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EP - 6

JO - Journal of Neuromuscular Diseases

JF - Journal of Neuromuscular Diseases

IS - 0

ER -

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

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