ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.
ATP7A
Dysautonomia
Menkes disease
Occipital horn syndrome
X-linked distal spinal muscular atrophy-3
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
10
03
2020
revised:
05
10
2020
accepted:
12
10
2020
pubmed:
3
11
2020
medline:
2
6
2021
entrez:
2
11
2020
Statut:
ppublish
Résumé
ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489) (Kennerson et al., 2010). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein (Møller, 2015). Thus far OHS and SMAX3 only partially overlap. In fact patients with OHS usually have no distal motor neuropathy signs but, on the other hand, occipital horns, which are the main sign of OHS, have not been described in SMAX3 patient. We describe here a patient bearing a missense ATP7A mutation with associated signs of distal motor neuropathy as well as occipital horns, confirming that OHS and SMAX3 are a continuum.
Identifiants
pubmed: 33137485
pii: S1769-7212(20)30797-7
doi: 10.1016/j.ejmg.2020.104087
pii:
doi:
Substances chimiques
ATP7A protein, human
EC 7.2.2.8
Copper-Transporting ATPases
EC 7.2.2.8
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
104087Informations de copyright
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