Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation – a novel phenotype of the mitochondrial disease
PBN-AR
Instytucja
Instytut Matki i Dziecka
Informacje podstawowe
Główny język publikacji
angielski
Czasopismo
Clinical Genetics (30pkt w roku publikacji)
ISSN
0009-9163
EISSN
1399-0004
Wydawca
WILEY-BLACKWELL
DOI
URL
Rok publikacji
2017
Numer zeszytu
1
Strony od-do
30-37
Numer tomu
91
Identyfikator DOI
Liczba arkuszy
Autorzy
Pozostali autorzy
+ 10
Autorzy przekładu
(liczba autorów przekładu: 0)
Słowa kluczowe
angielski
AIFM1 gene
hypomyelination
mitochondrial disorders
novel AIFM1-associated phenotype
p.Asp237Gly mutation
spondyloepimetaphyseal dysplasia with mental retardation
Streszczenia
Język
angielski
Treść
In 1999, based on a single family, spondyloepimetaphyseal dysplasia (SEMD) with mental retardation (MR) was described as a novel syndrome with probably X-linked recessive inheritance and unknown molecular defect (MIM 300232). Our purpose was to search for the causative defect in the originally described family and in an independently ascertained second family. All patients had slowly progressive neurodegeneration with central and peripheral involvement and identical skeletal dysplasia. Whole exome sequencing performed in two subjects showed a single plausible candidate – the p.Asp237Gly variant in AIFM1 (chr. Xq26.1). The p.Asp237Gly segregated with disease as indicated by linkage analysis [maximum logarithm of odds score (LOD) score at theta 0 for the two families was 3.359]. This variant had not been previously reported and it was predicted to be pathogenic by Polyphen2, SIFT, MutationTaster and Mutation Assessor. AIFM1 encodes mitochondria associated apoptosis-inducing factor. The AIFM1 gene has been linked with COXPD6 encephalomyopathy (MIM 300816), Cowchock syndrome (MIM 310490) and X-linked deafness with neuropathy (DFNX5, MIM 300614), none of which are similar to SEMD-MR. Our results place SEMD as the third instance of a skeletal phenotype associated with a mitochondrial disease (the others being EVEN-PLUS syndrome caused by mutations of HSPA9 and CODAS syndrome due to LONP1 mutations).
Cechy publikacji
artykuł w czasopiśmie zagranicznym
oryginalny artykuł naukowy
original article
publikacja recenzowana
Inne
System-identifier
PX-5aaa855cd5deb1580d409b28
CrossrefMetadata from Crossref logo
Cytowania
Liczba prac cytujących tę pracę
Brak danych
Referencje
Liczba prac cytowanych przez tę pracę
Brak danych