Genetic Counseling in Autistic Phenotypes

Marital Satisfaction and Happiness in Parents with Autistic and Normal Children

Objectives: The present study was conducted to compare the relationship between marital satisfaction and happiness in parents of autistic and normal childrenchildren. Methods: This causal-comparative research was conducted on all parents of autistic and normal children  who referred to the rehabilitation clinics in Tehran in 2017. Using available sampling, 220 parents (110 parents with autisti...

Molecular screening of R117H mutation in non caucasian cystic fibrosis patients in the north of Iran

Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.

We describe the identification and clinical presentation of four individuals from three unrelated families with hemizygous deletions involving the DPYD gene at chromosome 1p21.3. DPYD encodes dihydropyrimidine dehydrogenase, which is the initial and rate-limiting enzyme in the catabolism of pyrimidine bases. All four individuals described met diagnostic criteria for autism spectrum disorder wit...

New mouse genetic model duplicates human 15q11-13 autistic phenotypes, or does it?

Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist

Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological pheno...