Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.
European Journal of Medical Genetics. 2017-12-01; 60(12): 639-642
DOI: 10.1016/j.ejmg.2017.08.015
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1. Eur J Med Genet. 2017 Dec;60(12):639-642. doi: 10.1016/j.ejmg.2017.08.015. Epub
2017 Aug 14.
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy
and neurodegeneration with brain iron accumulation.
Dard R(1), Meyniel C(2), Touitou V(3), Stevanin G(4), Lamari F(5), Durr A(6),
Ewenczyk C(6), Mochel F(7).
Author information:
(1)AP-HP, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris,
France; CHI Poissy St Germain-en-Laye, Département de Génétique, Cytogénétique et
Biologie de la Reproduction, St Germain-en-Laye, France.
(2)AP-HP, Département de Neurophysiologie, Groupe Hospitalier Pitié-Salpêtrière,
Paris, France.
(3)AP-HP, Département d’Ophtalmologie, DHU Vision et Handicaps, Groupe
Hospitalier Pitié-Salpêtrière, Paris, France.
(4)Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S
1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
(5)AP-HP, Laboratoire de Biochimie Métabolique, Groupe Hospitalier
Pitié-Salpêtrière, Paris, France; Université Pierre et Marie Curie, Groupe de
Recherche Clinique Neurométabolique, Paris, France.
(6)AP-HP, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris,
France; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06
UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
(7)AP-HP, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris,
France; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06
UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France;
Université Pierre et Marie Curie, Groupe de Recherche Clinique Neurométabolique,
Paris, France. Electronic address: .
Defects of phospholipids remodelling and synthesis are inborn errors of
metabolism responsible for various clinical presentations including spastic
paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies, and
osteo-cutaneous manifestations. DDHD1 encodes a phospholipase A1, which is
involved in the remodelling of phospholipids. We previously described a
relatively pure hereditary spastic paraplegia (HSP) phenotype associated with
mutations in DDHD1. Here we report a complex form of HSP associated with retinal
dystrophy and a pattern of neurodegeneration with brain iron accumulation (NBIA)
on brain MRI, due to a novel homozygous mutation in DDHD1. This observation
enlarges the clinical spectrum of DDHD1-associated disorders and sheds light on a
new aetiology for syndromes associating retinopathy and NBIA. It also emphasizes
the role of complex lipids in the retina.
Copyright © 2017 Elsevier Masson SAS. All rights reserved.
DOI: 10.1016/j.ejmg.2017.08.015
PMID: 28818478 [Indexed for MEDLINE]