BABCKGROUND: Vitiligo is a cornmon disorder whose cause is not well understood. Up to 30% of patients had another family member with vitiligo which means that vitiligo is a heritable condition. We could not find any study for the genetics of vitiligo in Korean literature. OBJECTIVE: The purpose of this study was to clarify how genetic factors are involved in the pathogenesis of vitiligo in Korean patients. METHODS: We analyzed the 65 Korean vitiligo probands and their families. Each family was ascertained through a proband afflicted with vitiligo. RESULTS: 1. Focal type of vitiligo(44.6%) appeared to be with the highest frequency followed by the non-segmental generalized type(35.4%) and segmental type(20.0%). 2. The t,ype of vitiligo was not related with sex (p>0.9, X(2)(d.l=2) = 0.14). 3. There was a clear pattern of a familial aggregation of the vitiligo disease. In 29(44.6%) of these 65 proband families, at least one first-degree relative of the proband had vitiligo. The incidence of people affected among their 789 relatives (first, second and third-degree) was also found to be 9.13+/-1.03% 4. Several families in this study were shown to have father-son transmission of vitiligo, which indicates that vitiligo does not fit an x-linked inheritance. 5. There is a statistically significant departure frorn the expected which is inconsistent with a utosomal dominant inheritance (p<0.001, X(2)(d.l=2) = 52.32). 6. A single recessive model at the autosomal locus is not an explanation in deter mining the cause of vitiligo. The threshold trait among first-degree relatives(8.8%) shows a tendency to approach the square root of the frequency in the general population(10%) compared to those of dominant(50%) or recessive(25%) models. This result is consistent with a model of multifactorial inheritence for vitiligo. CONCLUSION: These result indicate that vitiligo is determined by a polygenic nature.
Genes, X-Linked ; Genetics* ; Humans ; Incidence ; Mining ; Vitiligo* ; Wills

Retinitis pigmentosa (RP) is a group of inherited disorders which involve photoreceptors of the retina and can lead to visual loss. The genetic and clinical phenotypes of RP feature high heterogeneity. RP can be divided into nonsyndromic and syndromic types, both may feature autosomal dominant, autosomal reccesive and X-linked inheritance. So far, many genes have been identified, most of which are expressed in the photoreceptors or retinal pigment epithelium. Sixty-three genes have been identified in nonsyndromic RP. This paper reviews recent progress in the research of the genetics of RP.
Genes, X-Linked ; Humans ; Proteins ; genetics ; Retinitis Pigmentosa ; genetics

X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected males compared to that in affected female. A missense mutation, Cys168Arg, was found in connexin 32 gene (Cx32/GJB1) from a patient with CMTX neuropathy. The familial history of this patient also suggested that the disease is X-linked CMT. Thus, we report a CMTX family having the novel Cys168Arg mutation in the Cx32 gene.
Female ; Genes, X-Linked ; Hereditary Sensory and Motor Neuropathy ; Humans ; Male ; Mutation, Missense* ; Phenotype

Bromidrosis is a disorder characterized by rancid body odor which influences a patient's social life and mental health. The therapeutic modalities and the mechanism of bromidrosis have been carefully studied, however, there have been few reports about the genetic inheritance of bromidrosis. We investigated the family history of 42 patients who were operated on for bromidrosis and followed up to the third generation in 10 cases. The results were as follows: Results of investigation which were followed up the second generation. The fathers of five patients and the mothers of 11 patients had bromidrosis in 18 male patients. The fathers of six patients and the mothers of 12 patients had bromidrosis in 24 female patients. Thirty-four patient (81.0%) among a total of 42 have a single parent with bromidrosis. Result of investigation which were followed up to the third generation Bromidrosis was occurred in 17 of 42 patients (40.5%) in the second generation, and 18 of 27 patients (66.7%) in the third generation. In one case, a father transmitted bromidrosis to his three sons, and as a result, X-linked inheritance could be ruled out Bromidrosis was not skipped in every generation of all families. We on conclude that bromidrosis is an autosomal dominant inherited disorder.
Fathers ; Female ; Genes, X-Linked ; Humans ; Male ; Mental Health ; Mothers ; Odors ; Single Parent ; Wills*

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with X-linked retinoschisis. METHODS: Clinical data of the pedigree was collected. Following DNA extraction, PCR and Sanger sequencing were carried out to detect potential variant in the RS1 gene. The result was verified by using PCR and restriction fragment length polymorphism assay. RESULTS: All male patients were found to harbor a c.458T>G (p.Val153Gly) variant of the RS1 gene, for which Their mothers were heterozygous carriers. The same variant was not detected among unaffected members of the pedigree as well as 100 healthy controls. Bioinformatic analysis suggested the variant to be pathogenic. CONCLUSION The c.458T>G (p.Val153Gly) variant of the RS1 gene probably underlay the X-linked retinoschisis in this pedigree.
China ; Eye Proteins/genetics* ; Genes, X-Linked ; Humans ; Male ; Mutation ; Pedigree ; Retinoschisis/pathology*

OBJECTIVETo study the clinical manifestations and identify causative mutations for a Chinese family affected with X-linked Charcot-Marie-Tooth disease.

METHODSClinical, electrophysiological and pathological features of the family were carefully analyzed by neurologists. Blood samples were obtained from the proband and other family members. Genomic DNA was extracted. Mutation analysis of GJB1 gene was analyzed with PCR and direct sequencing.

RESULTSThe family has fit with X-linked inheritance, and the affected individuals have typical clinical manifestations. A c.614A>G (p.Asn205Ser) mutation was detected in the GJB1 gene in all affected individuals in the family.

CONCLUSIONA c.614A>G (p.Asn205Ser) mutation of GJB1 gene is co-segregated with the disease phenotype in this family and probably underlies the disease.

Asian Continental Ancestry Group ; genetics ; Charcot-Marie-Tooth Disease ; genetics ; Child ; Connexins ; genetics ; Female ; Genes, X-Linked ; genetics ; Genetic Diseases, X-Linked ; genetics ; Humans ; Male ; Mutation ; Pedigree

BACKGROUND: Ankyloglossia or tongue-tie is a congenital anomaly characterized by an abnormally short lingual frenum. Its prevalence in the newborn population is approximately 4%. Its mode of inheritance has been studied in some articles, but no conclusion has been established. Also, no relevant report has been published in Korea. This study was conducted to elucidate the genetic inheritance of ankyloglossia via pedigree analysis. METHODS: In this study, 149 patients with no other congenital anomaly who underwent frenuloplasty between March 2001 and March 2010 were studied. Pedigrees were made via pre- or post-operative history taking, and patients with uncertain histories were excluded. In the patient group that showed a hereditary nature, the male-to-female ratio, inheritance rate, and pattern of inheritance were investigated. RESULTS: One hundred (67.11%) of the patients were male and 49 (32.89%) were female (male-female ratio=2.04:1). Ninety-one (61.07%) patients reported no other relative with ankyloglossia, and 58 (38.93%) patients had a relative with this disease. The inheritance rate was 20.69% in the 58 cases with a hereditary nature. In the group with no family history of ankyloglossia, the male-female ratio was 3.79:1, which significantly differed from that of the group with a family history of ankyloglossia. X-chromosome mediated inheritance and variation in the gene expression was revealed in the pedigree drawn for the groups with hereditary ankyloglossia. CONCLUSIONS: Ankyloglossia has a significant hereditary nature. Our data suggest X-linked inheritance. This study with 149 patients, the first in Korea, showed X-linked inheritance in patients with a sole anomaly.
Female ; Gene Expression ; Genes, X-Linked ; Humans ; Infant, Newborn ; Korea ; Lingual Frenum ; Male ; Mouth Abnormalities ; Pedigree ; Prevalence ; Wills

Charcot-Marie-Tooth disease (CMT) is the most common form of inherited motor and sensory neuropathy. Moreover, CMT is a genetically heterogeneous disorder of the peripheral nervous system, with many genes identified as CMT-causative. CMT has two usual classifications: type 1, the demyelinating form (CMT1); and type 2, the axonal form (CMT2). In addition, patients are classified as CMTX if they have an X-linked inheritance pattern and CMT4 if the inheritance pattern is autosomal recessive. A large amount of new information on the genetic causes of CMT has become available, and mutations causing it have been associated with more than 17 different genes and 25 chromosomal loci. Advances in our understanding of the molecular basis of CMT have revealed an enormous diversity in genetic mechanisms, despite a clinical entity that is relatively uniform in presentation. In addition, recent encouraging studies - shown in CMT1A animal models - concerning the therapeutic effects of certain chemicals have been published; these suggest potential therapies for the most common form of CMT, CMT1A. This review focuses on the inherited motor and sensory neuropathy subgroup for which there has been an explosion of new molecular genetic information over the past decade.
Axons ; Charcot-Marie-Tooth Disease* ; Classification ; Explosions ; Genes, X-Linked ; Humans ; Inheritance Patterns ; Models, Animal ; Molecular Biology ; Peripheral Nervous System

Emery-Dreifuss muscular dystrophy has become recognized as a distinct neuromuscular disorder with features including X-linked inheritance, insidious onset in childhood of a distinct pattern of muscle contractures and weakness, slow progression without loss of ambulation, and occurrence by mid-childhood of atrial conduction defects, which, if untreated, cause sudden death. We report a case of Emery-Dreifuss dystrophy with cardiac involvement of atrial standstill. The patient was 24 year-old man, who had suffered from dyspnea and bradycardia and was inserted by VVI type permanent pacemaker. Cardiac involvement usually becomes evident as muscle weakness progress and provided that the diagnosis is made sufficiently early, the insertion of a cardiac pacemaker can be life saving.
Bradycardia ; Contracture ; Death, Sudden ; Diagnosis ; Dyspnea ; Genes, X-Linked ; Humans ; Muscle Weakness ; Muscular Dystrophy, Emery-Dreifuss* ; Walking ; Young Adult

OBJECTIVE: To summarize clinical manifestations, inheritance pattern and mutations of NR0B1 gene in 7 children with X-linked adrenal dysplasia congenita (XL-AHC). METHODS: Clinical data of the 7 children was collected. Next-generation sequencing was carried out to detect potential mutations in the coding regions of adrenal gland-related genes. Suspected mutations were verified with Sanger sequencing. RESULTS: In all of the children, the initial symptom was adrenocortical insufficiency. Five cases had neonatal onset, while the remaining two developed it at the age of 2. Three cases (42.9%) had a short stature and 1 showed growth retardation (14.3%). Of the 7 cases, 6 (85.7%) had mutations occurring in exon 1, and 1 (14.3%) had it occurring in exon 2. Four cases (57.1%) were frameshift mutations, 2 cases (28.6%) were nonsense mutations and 1 case (14.3%) was missense mutation. Two mutations were known to be pathogenic, and 5 had not been reported previously. Maternal inheritance was found in 6 cases. Three children had a maternal uncle died of unexplained causes. The mothers of 2 children had a history of spontaneous abortions. One child had a brother died of unexplained reason. CONCLUSION Male children with primary adrenal insufficiency should be routinely checked for NR0B1 mutations, especially those with a family history. mutations of NR0B1 gene occur mostly in exon 1, with frameshift mutations being the most common type. The development of all patients with XL-AHC should be closely monitored during follow-up.
Adrenal Insufficiency ; Child ; DAX-1 Orphan Nuclear Receptor ; DNA Mutational Analysis ; Genes, X-Linked ; Humans ; Hypoadrenocorticism, Familial ; Male ; Mutation