Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0033377 (
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11,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Variants in
MCM3AP
, encoding the germinal-centre associated nuclear protein, have been associated with progressive polyneuropathy with or without intellectual disability and
ptosis
in some cases, and with a complex phenotype with immunodeficiency, skin changes and myelodysplasia.
MCM3AP
encoded protein functions as an acetyltransferase that acetylates the replication protein, MCM3, and plays a key role in the regulation of DNA replication. In this study, we report a novel variant in
MCM3AP
(p.Ile954Thr), in a family including three affected individuals with characteristic features of Charcot-Marie-Tooth neuropathy and multiple sclerosis, an inflammatory condition of the central nervous system without known genetic cause. The affected individuals were homozygous for a missense
MCM3AP
variant, located at the Sac3 domain, which was predicted to affect conserved amino acid likely important for the function of the germinal-centre associated nuclear protein. Our data support further expansion of the clinical spectrum linked to
MCM3AP
variant and highlight that
MCM3AP
should be considered in patients with accompaniment of recessive motor axonal Charcot-Marie-Tooth neuropathy and multiple sclerosis.
...
PMID:Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in
MCM3AP
. 3295 58
