Finding disease variants in Mendelian disorders
by using sequence data: methods and applications.
Couples carrying chromosomal abnormalities or mendelian disorders
would be advised to choose IVF with PGD (1, 2), especially those with an affected child.
In fact, babies born in the United States are required to undergo health screening before leaving the hospital, part of which includes common Mendelian disorders
like cystic fibrosis and sickle cell anemia.
Clinical exome sequencing for genetic identification of rare Mendelian disorders
that may be caused by mutations in any one of a number of known genes, such as familial cancers, visual loss, epilepsies or immunodeficiencies, can increasingly be diagnosed by means of sequencing a panel of genes known to cause that condition.
Genetic deviations are characterized thus as single gene, also called Mendelian disorders
, chromosomal disorders, multifactorial disorders, and mitochondrial disorders.
It is estimated that about 25% of Mendelian disorders
have craniofacial manifestations.
In addition to the phenotype descriptions, the database includes the list of Molecular Defects in Mendelian Disorders
, and the detailed Gene Maps of the autosomes and the X and Y chromosomes.
The company is also developing more ClariView Exome assays, including tests for analysis of all genes related to Mendelian disorders
of childhood, and a test analysing all areas clinically relevant to autism, developmental delay and intellectual disability.
The project, entitled Exome Sequencing Identifies Potential Risks Variants for Mendelian Disorders
at High Prevalence in Qatar, sequenced the DNA of 100 Qatari nationals representing the three major ethnic subgroups of the country -- the Bedouin, people of Persian-South Asian descent, and people of African descent.
Although Mendelian disorders
are individually rare, some are more prevalent than we have thought.
compile 56 chapters for all health professionals involved in the care of women with high-risk pregnancies that address such issues as nutrition, alcohol and substance abuse, and environmental agents and reproductive risk; genetic screening for Mendelian disorders
and fetal aneuploidy and neural tube defects; monitoring fetal lung maturity, antepartum fetal monitoring, and interpreting intrapartum fetal heart tracings; and maternal diseases such as sickle cell anemia, cardiac disease, diabetes, asthma, epilepsy, hypertension, lupus, infections, hepatitis, and HIV.