Revisiting Mendelian disorders
through exome sequencing.
Exomesequencing identifies the cause ofa mendelian disorder
. Nat Genet 2010;42:30-5.
are inherited diseases that occur because of the mutation (defect) of a single gene.
Solving the molecular diagnostic testing conundrum for Mendelian disorders
in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.
The laboratory method most often used to detect new or unidentified Mendelian disorders
has been whole-exome sequencing (WES), since most mutations causing these disorders are within the 1% of the genome that codes for proteins (i.e.
These facilities, in locations including Miami, Baltimore, and Cambridge, U.K., also treat children with so-called Mendelian disorders
, which are caused by a rare mutation in a single gene.
Regardless of whether they are studying rare disorders that necessitate comprehensive interrogation of the exome, disease-related regions, or Mendelian disorders
with known etiology that only require analysis of very specific targets, researchers now have a solution compatible with any type of exome sequencing platform, Borsatti added.
Genetic factors plays a major role in the etiology of DWM, may occur as part of Mendelian disorders
and chromosomal aberrations.
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 (termed Q1 for the purposes of the study), those of Persian-South Asian descent (Q2), and those of African descent (Q3).
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, those of Persian-South Asian descent and those of African descent.
The microscopic and reductionist approach of the West works best for acute and single-gene conditions such as infections and Mendelian disorders
, he says, and the macroscopic and holistic approach of the East potentially fare well in sub-clinical, chronic, and complex conditions such as lumbago, obesity, and aging.
One of the strategies used for identifying susceptibility genes is to study their co-segregation with Mendelian disorders
. The family of patient 1 illustrates such an opportunity as some of her members had co-occurrence of schizophrenia and Darier's disease.
Any test performed on a blood or saliva specimen could, in theory, be offered directly to consumers, and many such tests have already been well validated, including those for diagnosing classical Mendelian disorders
such as sickle-cell anemia and cystic fibrosis....
This work presents cutting-edge applications for the rapid assessment of fetal aneuploidies and Mendelian disorders
on fetal material gained by invasive approaches, as well as procedures being validated for routine, noninvasive clinical analysis of cell free fetal DNA.
In rare cases, the source of the genetic contribution to the effects of smoking is clear: single-gene Mendelian disorders
such as [alpha.sub.1]-antitrypsin deficiency show a very strong gene-environment interaction.