Use of HSALR female mice as a model for the study of myotonic dystrophy type I
HSALR mice are the most broadly used animal model for studying myotonic dystrophy type I (DM1). However, so far, HSALR precli…
Tag: Disease genetics
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Mutations in IBA57 disrupt iron-sulfur clusters maturation, causing a rare mitochondrial disease. Clinical manifestations vary from neonatal…
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
TXNDC15 encodes thioredoxin domain-containing protein 15, a protein disulfide isomerase that plays a role in ciliogenesis. Biallelic TXND…
Biallelic missense CEP55 variants cause prenatal MARCH syndrome
CEP55 encodes centrosomal protein 55 kDa, which plays a crucial role in mitosis, particularly cytokinesis. Biallelic …
Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia
Asthenospermia is a type of sperm that has malformed sperm with movement disorders that lead to male infertility. DNAH9 is a member of the dynein f…
Identification of biallelic intronic EPM2A mutations in a Lafora disease kindred
Lafora disease (LD) is a severe autosomal recessive disease, which usually presents as seizure and myoclonus, followed by behavioral changes, dysar…
Cancer and disease profiles for PTEN pathogenic variants in Japanese population
A germline alteration in the PTEN gene causes a spectrum of disorders conceptualized as PTEN hamartoma tumor syndrome (PHTS), which s…
Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping
Mutations in fibrillin-1 (FBN1) cause various clinical conditions, such as Marfan syndrome (MFS). However, the genotype–phenotype r…
NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas
Neurofibromatosis type 1 (NF1) is an autosomal dominant nevus disease characterized by multiple manifestations, primarily café-au-lait macules and…