Molecular and cytogenetic analyses of autism in Taiwan

Li, Shuan‐Yow; Chen, Yung-Cheng Joseph; Lai, Te-Jen; Hsu, Chuan-Yu; Wang, Yichun

doi:10.1007/bf00216447

Cited by 34 publications

(20 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mutations in the adenylosuccinate lyase gene on chromosome 22q13.1-q13.2 have been reported in three sibs with autism [Stone et al, 1992], but not in a follow-up study of 119 patients with autism [Fon et al, 1993]. Finally, the appearance of autism in a small number of patients with various other genetic disorders (Fragile X syndrome, Rett syndrome, Goldberg-Shprintzen syndrome, Asperger syndrome, Brachmann-deLange syndrome, hypomelanosis of Ito, Joubert syndrome, neurofibromatosis, phenylketonuria, and tuberous sclerosis) is consistent with a genetic cause for autism and the potential involvement of a large number of genes in the development of language and social skills [Akefeldt and Gillberg, 1991;Annerén et al, 1995;Bay et al, 1993;Brown et al, 1986;Cohen et al, 1991;Folstein and Piven, 1991;Gillberg and Coleman, 1996;Holroyd et al, 1991;Hunt and Shepherd, 1993;Li et al, 1993;McKusick, 1994;Yomo et al, 1991]. This contention is further supported by sporadic reports describing a number of chromosome abnormalities, each of which has been seen in only one or a small number of patients with autism (Table I).…”

Section: Introductionmentioning

confidence: 72%

Intersitial deletion of 20p: New candidate region for Hirschsprung disease and autism?

et al. 1997

View full text Add to dashboard Cite

We describe a patient with Hirschsprung disease and autism. High-resolution karyotyping indicated that the patient has an interstitial deletion of 20p11.22-p11.23. Microsatellite analysis showed a deletion involving a 5-6 cM region from the maternally derived chromosome 20. The deleted region is proximal to, and does not overlap, the recently characterized Alagille syndrome region. This region of 20p has not yet been implicated in Hirschsprung disease or autism. However, this region contains several genes that could plausibly contribute to any phenotype that includes abnormal neural development.

show abstract

Section: Introductionmentioning

confidence: 72%

Intersitial deletion of 20p: New candidate region for Hirschsprung disease and autism?

et al. 1997

View full text Add to dashboard Cite

show abstract

“…More recent epidemiologic studies have documented rates of FXS between 7% and 8% in populations with autism. 26,33,51,52 The discrepancies regarding the prevalence of FXS among individuals with autism may reflect the limited reliability of the cytogenetic tests used in the past compared with the more sensitive molecular tests currently used; as such, the number of girls who receive a diagnosis of FXS has increased. 6 Genetic mutations that give rise to a number of additional diagnosable diseases may also be associated with autism.…”

Section: Defined Nongenetic and Genetic Medical Conditions Associatedmentioning

confidence: 99%

The Genetics of Autism

2004

View full text Add to dashboard Cite

ABSTRACT. Autism is a complex, behaviorally defined, static disorder of the immature brain that is of great concern to the practicing pediatrician because of an astonishing 556% reported increase in pediatric prevalence between 1991 and 1997, to a prevalence higher than that of spina bifida, cancer, or Down syndrome. This jump is probably attributable to heightened awareness and changing diagnostic criteria rather than to new environmental influences. Autism is not a disease but a syndrome with multiple nongenetic and genetic causes. By autism (the autistic spectrum disorders [ASDs]), we mean the wide spectrum of developmental disorders characterized by impairments in 3 behavioral domains: 1) social interaction; 2) language, communication, and imaginative play; and 3) range of interests and activities. Epidemiologic studies indicate that environmental factors such as toxic exposures, teratogens, perinatal insults, and prenatal infections such as rubella and cytomegalovirus account for few cases. These studies fail to confirm that immunizations with the measles-mumps-rubella vaccine are responsible for the surge in autism. Epilepsy, the medical condition most highly associated with autism, has equally complex genetic/nongenetic (but mostly unknown) causes. Autism is frequent in tuberous sclerosis complex and fragile X syndrome, but these 2 disorders account for but a small minority of cases. Currently, diagnosable medical conditions, cytogenetic abnormalities, and single-gene defects (eg, tuberous sclerosis complex, fragile X syndrome, and other rare diseases) together account for <10% of cases. There is convincing evidence that "idiopathic" autism is a heritable disorder. Epidemiologic studies report an ASD prevalence of ϳ3 to 6/1000, with a male to female ratio of 3:1. This skewed ratio remains unexplained: despite the contribution of a few well characterized X-linked disorders, male-to-male transmission in a number of families rules out X-linkage as the prevailing mode of inheritance. The recurrence rate in siblings of affected children is ϳ2% to 8%, much higher than the prevalence rate in the general population but much lower than in single-gene diseases. Twin studies reported 60% concordance for classic autism in monozygotic (MZ) twins versus 0 in dizygotic (DZ) twins, the higher MZ concordance attesting to genetic inheritance as the predominant causative agent. Reevaluation for a broader autistic phenotype that included communication and social disorders increased concordance remarkably from 60% to 92% in MZ twins and from 0% to 10% in DZ pairs. This suggests that interactions between multiple genes cause "idiopathic" autism but that epigenetic factors and exposure to environmental modifiers may contribute to variable expression of autism-related traits. The identity and number of genes involved remain unknown. The wide phenotypic variability of the ASDs likely reflects the interaction of multiple genes within an individual's genome and the existence of distinct genes and gene combinations among those affec...

show abstract

“…Although prevalence estimates vary across studies, there is agreement that the risk of autism spectrum disorders (ASD) is higher in FXS than in many other neuro-developmental disorders. From recent studies, *2% to 6% of children with ASD have FXS (Li et al, 1993;Wassink et al, 2001;Estecio et al, 2002;Hagerman, 2002;Reddy, 2005), and *30% of children with FXS have ASD (see Appendix in Rogers et al, 2001;Kaufmann et al, 2004); Pervasive Developmental Disorder-Not Otherwise Specified is seen in an additional 30% (Harris et al, 2008). In fact, FXS is characterized by a broad spectrum of behavioral and emotional impairment, psychological problems, and learning disabilities in those without mental retardation or ID.…”

mentioning

confidence: 99%

Identification of Expanded Alleles of theFMR1Gene Among High-Risk Population in Indonesia by Using Blood Spot Screening

Winarni

Utari

Mundhofir

et al. 2012

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

The prevalence of Fragile X Syndrome (FXS) is 1 in 4000 in males and 1 in 2500 in males and females, respectively, in the general population. Several screening studies aimed at determining the prevalence of FXS have been conducted in individuals with intellectual disabilities (IDs) with a prevalence varying from 1.15% to 6.3% across different ethnic groups. A previous study in Indonesia showed an FXS prevalence of 1.9% among the ID population. A rapid, effective, and inexpensive method for FMR1 screening, using dried blood spots capable of detecting an expanded FMR1 allele in both males and females, was recently reported. We used this approach to screen 176 blood spots, collected from Central Java, Indonesia, for the presence of expanded FMR1 gene alleles. Samples were collected from high-risk populations: 112 individuals with ID, 32 obtained from individuals with diagnosis of autism spectrum disorders, and 32 individuals with a known family history of FXS. Fourteen subjects carrying an FMR1 expanded allele were identified including 7 premutations (55-200 CGG repeats) and 7 full mutations ( > 200 repeats). Of the seven subjects identified with a full mutation, one subject was from a nonfragile X family, and six from were families with a history of FXS.Introduction F ragile X syndrome (FXS), with a prevalence of 1:2500 to 1:4000 in the general population (Turner et al., 1996;Crawford et al., 2002;Hagerman, 2008), is the most common genetic cause of intellectual disability (ID) and the leading genetic cause of autism. Although prevalence estimates vary across studies, there is agreement that the risk of autism spectrum disorders (ASD) is higher in FXS than in many other neuro-developmental disorders. From recent studies, *2% to 6% of children with ASD have FXS (Li et al., 1993;Wassink et al., 2001;Estecio et al., 2002;Hagerman, 2002;Reddy, 2005), and *30% of children with FXS have ASD (see Appendix in Rogers et al., 2001;Kaufmann et al., 2004); Pervasive Developmental Disorder-Not Otherwise Specified is seen in an additional 30% (Harris et al., 2008). In fact, FXS is characterized by a broad spectrum of behavioral and emotional impairment, psychological problems, and learning disabilities in those without mental retardation or ID. In addition, specific physical features such as long face, macrognathia, prominent ears, hyperextensible joints, flat feet, and macroorchidism in puberty are observed (Hagerman et al., 1991;Lachiewicz and Dawson, 1994;Giangreco et al., 1996). The milder phenotypes are not accounted for in the current prevalence figures (Tassone et al., 1999;Hagerman, 2006). In addition, significant phenotypic involvement has emerged in some individuals with the premutation (55-200 CGG repeats), including fragile X-associated premature ovarian insufficiency (FXPOI) in females, and fragile X-associated tremor/ataxia syndrome (FXTAS) in both male and female aging carriers Sullivan et al., 2005). Prevalence for premutation alleles was *1 in 110-250 for females and 1 in 250-800 for males (Rousseau et al., 199...

show abstract

Molecular and cytogenetic analyses of autism in Taiwan

Cited by 34 publications

References 21 publications

Intersitial deletion of 20p: New candidate region for Hirschsprung disease and autism?

Intersitial deletion of 20p: New candidate region for Hirschsprung disease and autism?

The Genetics of Autism

Identification of Expanded Alleles of theFMR1Gene Among High-Risk Population in Indonesia by Using Blood Spot Screening

Contact Info

Product

Resources

About