Search
Search Results
-
Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family
BackgroundSPG18 is caused by mutations in the endoplasmic reticulum lipid raft associated 2 ( ERLIN2 ) gene. Autosomal recessive (AR) mutations are...
-
LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature
PurposeLRP5 high bone mass (HBM) is an autosomal dominant endosteal hyperostosis caused by mutations of the low-density lipoprotein receptor-related...
-
Genotype–Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis
The most prevalent type of intestinal polyposis, colorectal adenomatous polyposis (CAP), is regarded as a precancerous lesion of colorectal cancer...
-
Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier
BackgroundCholesterol ester storage disorder (CESD; OMIM: 278,000) was formerly assumed to be an autosomal recessive allelic genetic condition...
-
Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease
BackgroundHeterozygous mutations in HTRA1 were recently found to cause autosomal dominant cerebral small vessel disease (CSVD), and it was named...
-
-
A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection
BackgroundAutosomal dominant signal transducer and activator of transcription 1 (STAT1) deficiency, part of the Mendelian susceptibility to...
-
Oligogenic inheritance in severe adult obesity
Background/objectiveThe genetic architecture of extreme non-syndromic obesity in adults remains to be elucidated. A range of genes are known to cause...
-
A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy
PurposeTo describe the natural history of autosomal dominant (AD) GUCY2D-associated cone–rod dystrophies (CRDs), and evaluate associated structural...
-
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
BackgroundAutosomal-dominant spinocerebellar ataxia (ADCA) due to intronic GAA repeat expansion in FGF14 (SCA27B) is a recent, relatively common...
-
Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers
BackgroundAlport syndrome (AS) is the second most prevalent genetic cause of kidney failure, behind autosomal-dominant polycystic kidney disease,...
-
Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke
Background(1) Description of clinical and cranial MRI features in the original Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy...
-
Types of Inheritance and Genes Associated with Familial Meniere Disease
Meniere disease (MD) is a rare disorder of the inner ear defined by sensorineural hearing loss (SNHL) associated with episodes of vertigo and...
-
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers
By whole-exome sequencing, we found the heterozygous POLG variant c.3542G>A; p.Ser1181Asn in a family of four affected individuals, presenting with a...
-
Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome
BackgroundCongenital cataract-microcornea syndrome (CCMC) is characterized by the association of congenital cataract and microcornea without any...
-
Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the presence of proliferative lesions throughout the body....
-
Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
BackgroundEmery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically...
-
Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β
Autosomal dominant tubulointerstitial kidney disease (ADTKD) refers to a group of disorders with a bland urinary sediment, slowly progressive chronic...
-
Blocker displacement amplification-based genetic diagnosis for autosomal dominant polycystic kidney disease and the clinical outcomes of preimplantation genetic testing
ObjectiveGiven that the molecular diagnosis of autosomal dominant polycystic kidney disease (ADPKD) is complicated, we aim to apply blocker...
-
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
BackgroundArthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal...
