This has been the case of conditions of intellectual disability, which affect almost 200 million people around the globe. Yet, not much is understood about the underlying genes or molecular pathways involved in these conditions.
A new study from the laboratory of Dr. Hugo Bellen, in collaboration with Dr. Stylianos Antonarakis, professor emeritus at the University of Geneva, reports the discovery of a new neurological syndrome that appears to be especially common in countries where marriages between genetically related individuals, such as cousins, are prevalent.
Individuals - Families - Pakistan - Saudi - Arabia
"We describe five affected individuals from two unrelated families in Pakistan and Saudi Arabia," said Bellen, professor of molecular and human genetics and neuroscience at Baylor and investigator at the Howard Hughes Medical Institute and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital.
All five patients in the cohort presented with similar clinical symptoms -- intellectual disability, developmental delays, short stature, speech loss, low muscle tone and, in some cases, seizures and aggressive behavior. Analysis of the patients' exomes (all the protein coding regions of the DNA) showed that they carry mutations in gene IQSEC1.
Humans - IQSEC1 - Family - Genes - Mutations
In humans, IQSEC1 belongs to a family of three related genes. Mutations in the other gene family members, IQSEC2 and IQSEC3, previously were implicated in certain types of intellectual disabilities and/or seizures. This is the first study to identify mutations in IQSEC1 that cause a neurodevelopmental disorder.
All the individuals in this cohort were from consanguineous families and had inherited two defective copies of IQSEC1, one from each parent. The defective copies of IQSEC1...
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