Infantile nystagmus is characterized by involuntary oscillations of one or both eyes being present at birth or shortly thereafter without systemic or ophthalmologic lesions. Its inheritance pattern is not known exactly, but three types have been distinguished; irregular dominant, sex linked recessive, and simple recessive patterns. We observed 15 patients with family history and analyzed the characteristics of their inheritance patterns. We concluded the patterns of inheritance are irregular X-linked or autosomal dominant inheritance with incomplete penetrance in 7 families(47%), X-linked recessive or autosomal dominant inheritance in 5 families(33%), and autosomal dominant inheritance in 3 families(20%), respectively.
Humans ; Inheritance Patterns ; Parturition ; Penetrance ; Wills*

Genetic factors are important host factors that play a role in the development of all diseases through their interaction with environmental factors. Most genetic disorders are the direct result of a mutation in a single gene. However, one of the most difficult challenges currently faced by researchers is the identification of ways in which genes contribute to diseases with complex inheritance patterns, such as cancer, diabetes, asthma, and mental illness. In all of these cases, no single gene determines whether a person will develop a disease. Several genes may contribute to an individual's susceptibility to a disease; genes may also affect how an individual reacts to environmental factors. In this study, we attempted to classify high-risk groups using up-to-date genetic knowledge. We also briefly discuss the role of scientific evidence in the identification (through genetic screening) and management of high-risk subgroups in the population.
Asthma ; Humans ; Inheritance Patterns

Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal dominant inheritance is demonstrable, because sporadic mutation is believed to cause about 50 % of the observed rnultiple neurofibromatosis cases, and because such patients show reduced fertility. The authors observed a family case in which the typical autosomal dominant inheritance could be demonstrated. Among 17 consanguinities of the 3 generations studied, 12 had developed multiple neurofibrornatosis. The presumed reason for the high incidence of the disease in the family studied is 2 fold: 1) The autosomal dominant gene responsible for the disease is highly penetrable. 2) The mutant gene responsible for the disease, for some unexplained reason, was transmitted from patient No. 1 to a.ll of her offsprings, instead of to only half of her offsprings, as would be expected. Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal dominant inheritance is demonstrable, because sporadic mutation is believed to cause about 50 % of the observed rnultiple neurofibromatosis cases, and because such patients show reduced fertility. The authors observed a family case in which the typical autosomal dominant inheritance could be demonstrated. Among 17 consanguinities of the 3 generations studied, 12 had developed multiple neurofibrornatosis. The presumed reason for the high incidence of the disease in the family studied is 2 fold: 1) The autosomal dominant gene responsible for the disease is highly penetrable. 2) The mutant gene responsible for the disease, for some unexplained reason, was transmitted from patient No. 1 to a.ll of her offsprings, instead of to only half of her offsprings, as would be expected. Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal dominant inheritance is demonstrable, because sporadic mutation is believed to cause about 50 % of the observed rnultiple neurofibromatosis cases, and because such patients show reduced fertility. The authors observed a family case in which the typical autosomal dominant inheritance could be demonstrated. Among 17 consanguinities of the 3 generations studied, 12 had developed multiple neurofibrornatosis. The presumed reason for the high incidence of the disease in the family studied is 2 fold: 1) The autosomal dominant gene responsible for the disease is highly penetrable. 2) The mutant gene responsible for the disease, for some unexplained reason, was transmitted from patient No. 1 to a.ll of her offsprings, instead of to only half of her offsprings, as would be expected.
Consanguinity ; Family Characteristics ; Fertility ; Genes, Dominant ; Humans ; Incidence ; Inheritance Patterns ; Neurofibromatoses* ; Neurofibromatosis 1 ; Wills

The congenital lens dislocation is a uncommon genetic disease, which is inherited autosomal dominant mannner and less likely autosomal recessive. The cause of the disease has not been fully understood although there are some hypothesis based on developmental anomaly. There are controversies about the management of the disease. In these days, early surgery is usually performed to prevent the compilcation. The authors experienced five patients in two families and three of them were operated with good results. They showed autosomal dominaot inheritance pattern. So, we present five cases of uncommon congenital lens dislocation with a brief review of literature.
Humans ; Inheritance Patterns ; Lens Subluxation*

Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have an autosomal dominant inheritance pattern. To date, 8 subtypes have been defined according to clinical and genetic characteristics, and five genes are known to be linked to EAs. Both EA1 and EA2, which are caused by mutations in KCNA1 and CACNA1A, account for the majority of EA, but many patients with no identified mutations still exhibit EA-like clinical features. Furthermore, genetically confirmed EAs have mostly been identified in Caucasian families. In this article, we review the current knowledge on the clinical and genetic characteristics of EAs. Additionally, we summarize the phenotypic features of the genetically confirmed EA2 families in Korea.
Ataxia* ; Humans ; Inheritance Patterns ; Korea

OBJECTIVE: To investigate the clinical and genetical characteristics of a Chinese family with an autosomal-dominant inherited high-frequency sensorineural hearing loss. METHOD: Pedigree was drawn after investigation. Fifeteen family members were checked up, and detailed audiological examination was performed. RESULT: The proband of the kindred had been diagnosed with senserineural hearing loss. A Chinese family SX-G087 with non-sysdromic hearing loss was ascertained. The inheritance pattern of this family is autosomal dominant based on the investigated information. The affected members showed postlingual, progressive, bilateral moderate to severe sensorineural hearing impairment. The age of onset varied from 20 to 35 years. The hearing loss began at high frequencies, and lower frequencies became involved with increasing age. CONCLUSION Pedigree analysis suggested an autosomal-dominant inheritance pattern in this family. The information should facilitate linkage analysis and positional cloning for the causative gene of this family.
Adult ; Age of Onset ; Asian Continental Ancestry Group ; China ; Genes, Dominant ; Hearing Loss, Sensorineural ; genetics ; Humans ; Inheritance Patterns ; Pedigree ; Young Adult

Cis A2B3 is a rare blood type with unusual inheritance pattern of A2, B3 genes on the same chromosome in contradiction to the general Mendelian pattern. Unlike the AB blood type, cis A2B3 shows weaker B antigenicity and unexpectedly has moderate amount of anti-B antibody in serum. Thus it has the potential of misidentification as blood type A or AB and the possibility of acute major transfusion reaction from transfusion of the usually known AB blood group RBCs. This is a case report of anesthetic management of one patient with his blood type discovered as cis A2B3 preoperatively. During hip surgery he received 2 units of washed O RBCs without any problems. I report the anesthetic experience with a brief review of literature.
Blood Group Incompatibility ; Hip ; Humans ; Inheritance Patterns

BACKGROUND: Family communication facilitates coping a genetic condition by ensuring accurate understanding of the illness,its inheritance pattern,associated recurrence risk and risk perception.

OBJECTIVE: This paper explores Filipino mothers' experience in communicating information about congenital adrenal hyperplasia (CAH) to their children.

METHODS:Descriptive qualitative design was used.families affected with CAH were recruited  via a CAH support group.Semi-structure interview with mothers were done on the following topics:content and understanding information  communicated,reasons for communicating,and changes and adjustments in the family.Thematic analysis was used to analyze the data.

RESULTS:Five families consisting 11 individuals ,including four mothers,were interviewed.finding revealed that while mother are open to communicate with their child about CAH,this is often triggered by question from the child.Mother find it challenging to discuss about the condition  and when they do discuss,this is most often done to facilitate better understanding among the siblings.There is an attempt to explain inheritance of CAH but this is also limited to the mother's understanding.

CONCLUSION:The findings of the study provide guidance to health professional on how they can support parents,particularly mothers,in discussing CAH with their children.

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

BACKGROUND AND OBJECTIVES: To analyse the audiometric profile and the pedigree of a large family with otosclerosis to understand the inheritance pattern and its implication in clinical management of the disease. SUBJECTS AND METHODS: Pedigree analysis was performed on the basis of family history and audiometric tests. Pure tone audiometry, tympanometry, and acoustic reflexes were evaluated for the family members. Audiometric analysis was also carried out for the individuals who have already underwent corrective surgery at the time of study. RESULTS: Out of 112 family members, 17 were affected individuals, and 11 of them were surgically confirmed. Hearing loss (HL) started unilaterally and progressed to bilateral form. Otosclerosis was presented in early 20’s in the first and second generations but it was delayed to mid-late 30’s in the fourth generation. An affected female was diagnosed with otosclerosis during her pregnancy. Though the disease was familial, a mother of four affected offspring in this family did not develop otosclerosis until she died at the age of 84. CONCLUSIONS: The five-generation family, which was analysed in the present study, exhibited autosomal dominant inheritance of otosclerosis with reduced penetrance. Bilateral HL and pregnancy-aggravated otosclerosis were observed in this family. It was found for the first time that the age of onset of the disease delayed in the successive generations. The current study indicated the importance of detailed pedigree analysis for better clinical management of otosclerosis.
Acoustic Impedance Tests ; Age of Onset ; Audiometry ; Family Characteristics ; Female ; Hearing Loss ; Hearing Loss, Conductive ; Humans ; Inheritance Patterns ; Mothers ; Otosclerosis ; Pedigree ; Penetrance ; Pregnancy ; Reflex, Acoustic ; Wills