Autosomal recessive cerebellar ataxias (ARCA) are a highly heterogeneous group of rare neurodegenerative diseases affecting both central and peripheral nervous systems. Based on pathological mechanisms, five major types of ARCA may be distinguished, which include mitochondrial ataxia, metabolic disorder, DNA repair defect ataxia, congenital ataxias and degenerative ataxia. This review summarizes clinical features, molecular genetics and recent advances in DNA sequencing of common types of ARCA.
Cerebellar Ataxia ; classification ; genetics ; metabolism ; Genes, Recessive ; Humans

Genes, Recessive ; Humans ; Nephritis, Hereditary ; diagnosis ; Nephrotic Syndrome ; diagnosis

Ectodermal dysplasia tends to fall into two groups, the hidrotic and anhidrotic fo rms. Each type has a seperate geneologic origin and distinct clinical manifestation. The hidrotic form usually results from the action of an autosomal dominant gene, whereas the anhidrotic form appears to be deterrnined by the action of a sex linked recessive gene. In the hidrotic form the main clinical manifestations are dystrophic nails, defects of hair shaft and hyperkeratosis of the palms and soles. Recently one case with dystrophic nails, defects of hair and eyebrow and normaI sweating function without family history has been seen by us.
Ectoderm* ; Ectodermal Dysplasia ; Eyebrows ; Genes, Dominant ; Genes, Recessive ; Hair ; Humans ; Sweat ; Sweating

Introduced in 2009, whole-exome sequencing (WES) is a technology in which target capture methods are used to enrich sequences of coding regions of genes from fragmented total genomic DNA, which is followed by high-throughput sequencing of the captured fragments. As reported, WES has been successfully applied for discovering genes underlying several Mendelian diseases, especially autosomal recessive types. In this review, authors have summarized the main computational strategies which have been applied to identify novel autosomal recessive diseases genes using whole-exome data.
Cloning, Molecular ; Exome ; Genes, Recessive ; Genetic Diseases, Inborn ; genetics ; Humans ; Sequence Analysis, DNA

The faded mouse is a coat color mutant that shows faded coat color and age-related loss of pigmentation. This mutation is transmitted by an autosomal recessive gene with 100% penetrance. In the present study, we carried out linkage analysis of the faded (fe) gene using intra-specific backcross panels. Affected faded mice were carefully confirmed by their faded coat color at about 4 weeks of age. In the intra-specific backcross between faded and CBA mice (n=198), the fe gene was mapped to a region 2.1 cM distal to D10mit191. Therefore, the gene order was defined as follows: centromere-D10mit51 (12.4+/-2.4 cM)-D10mit191 (2.1+/-1.0 cM)-fe-D10mit44 (13.3+/-2.4 cM)-D10mit42 (14.4+/-2.5 cM). This linkage map of the fe locus will provide a good entry point to isolate the fe gene. Since the faded mouse has pigmentary abnormalities, this mutant may be a useful model for studies of pigmentary abnormalities in humans.
Animals ; Chromosomes, Human, Pair 10 ; Gene Order ; Genes, Recessive ; Humans ; Mice ; Mice, Inbred CBA ; Penetrance ; Pigmentation

Child ; Ectodermal Dysplasia ; diagnosis ; genetics ; Family Health ; Genes, Recessive ; genetics ; Humans ; Male ; Sex Factors

Attractin, the research of which has flourished in recent years, is an autosomal recessive gene. The gene is widely expressed, and involved in a number of physiological and pathological events. This paper reviews the research development of the Attractin gene, including the characterization, expression, mutation, function and molecular mechanism of this gene. Besides, further research on the gene is also suggested.
Animals ; Gene Expression ; Genes, Recessive ; Humans ; Male ; Membrane Proteins ; genetics ; Molecular Sequence Data ; Mutation ; Rats

OBJECTIVETo analyze the clinical features and gene mutation of Chinese children with Alport syndrome(AS).

METHODFrom May 2011 to May 2014, clinical and pathological information gathered from 25 patients was retrospectively analyzed. COL4A5, COL4A4 and COL4A3 genes were analyzed using next-generation sequencing in these patients, and gene mutations of related family members were identified by Sanger method.

RESULTOf these 25 cases, 19(76%) had X-linked Alport syndromes (XL-AS), 6 had autosomal recessive Alport syndromes (AR-AS). Twenty five patients had an onset of hematuria and proteinuria and in 8 cases the disease was induced by upper respiratory tract infections. Hearing loss was present in 2 of 25 (8%) cases and ocular lesions in 1 of 25 (4%). Renal pathology showed that 16 of them had minimal change disease (MCD), 8 mesangial proliferative glomerulonephritis (MsPNG), 1 focal segmental glomerulo-sclerosis (FSGS). Extensive lamination and split of glomerular basement membrane (GBM) dense layers were found in 2 (8%) of 25 patients. Twenty one of 25 patients (84%) showed abnormal renal α-chain distribution. COL4A5, COL4A4 and COL4A3 genes of 25 patients (23 families) were analyzed and 24 pathogenic mutations were identified: 18 in COL4A5, 1 in COL4A3 and 5 in COL4A4. It was observed that 13 patients inherited the mutation from the mother, 3 patients inherited from the father, 2 patients inherited 1 mutation from the mother and another mutation from the father, and 7 patients carried the novel mutations.

CONCLUSIONXL is the main inherited type in AS. Most of patients showed MCD and MsPNG in renal biopsy. This research examined 24 mutations and 16 mutations were not reported previously.

Child ; Deafness ; Genes, Recessive ; Genotype ; Hematuria ; Humans ; Kidney ; Mutation ; Nephritis, Hereditary ; genetics ; pathology ; Pedigree ; Phenotype

OBJECTIVE: To carry out mutation analysis for a Chinese family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). METHODS: Whole exome sequencing (WES) was used to screen potential mutations within genomic DNA extracted from the proband. Suspected mutation was validated by combining clinical data and results of Sanger sequencing. RESULTS: A homozygous deletional mutation c.3665_3675delGTGCTGTCTTA (p.S1222fs) was found in the proband, for which her parents were both heterozygous carriers. CONCLUSION WES is capable of detecting mutation underlying this disorder and facilitating genetic counseling and prenatal diagnosis for the affected family. A novel pathogenic mutation of the SACS gene was discovered.
Female ; Genes, Recessive ; Heat-Shock Proteins ; genetics ; Humans ; Muscle Spasticity ; Mutation ; Spinocerebellar Ataxias ; congenital

The Complete testicular feminization syndrome is a hereditary syndrome characterized clinically by female phenotype with 46, XY karyotype and bilateral testes. There is a congenital insensitivity to androgens, transmitted by means of a maternal X-linked recessive gene responsible for the androgen intracellular receptor. Therefore, androgen induction of Wolffian duct development does not occur. However, anti-mullerian hormone activity is present and the individual does not have mullerian development. Principle of treatment is reinforced to live normal female life. This is a case report of testicular feminization syndrome with rudimentary salpinx with the brief review of literatures.
Androgen-Insensitivity Syndrome* ; Androgens ; Anti-Mullerian Hormone ; Fallopian Tubes* ; Female ; Genes, Recessive ; Humans ; Karyotype ; Male ; Phenotype ; Testis ; Wolffian Ducts