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:C0026827 (
hypotonia
)
5,860
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
As a member of spectraplakin family of cytoskeletal crosslinking proteins,
microtubule-actin crosslinking factor 1
(
MACF1
) controls cytoskeleton network dynamics. Knockout of
Macf1
in mice resulted in the developmental retardation and embryonic lethality. Spectraplakinopathy type I, a novel neuromuscular condition characterized by periodic
hypotonia
, lax muscles, joint contracture, and diminished motor skill, was reported to be associated with heterozygous genomic duplication involving the
MACF1
loci, with incomplete penetrance and highly variable clinical presentation in a single pedigree. In this study, parental-derived compound heterozygous novel missense mutations of
MACF1
, c.1517C>T (p.Thr506Ile) and c.11654T>C (p.Ile3885Thr), were found to co-segregate with disease status in two affected brothers presenting with progressive spastic tetraplegia, dystonia, joint contracture, feeding difficulty and developmental delay. We speculated that
MACF1
mutations cause spectraplakinopathy inherited in an autosomal recessive manner. Our clinical findings expanded the phenotype of this neuromuscular disorder and provided new insights into the function of
MACF1
.
...
PMID:Mutations of
MACF1
, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy. 3201 38
