Can microcephaly be genetic?

Published by Anaya Cole on

Can microcephaly be genetic?

In some cases, microcephaly may be caused by inheriting an abnormal gene. Microcephaly is an autosomal recessive gene disorder. Autosomal means that boys and girls are equally affected. Recessive means that two copies of the gene, one from each parent, are needed to have the condition.

What does ASPM gene do?

The ASPM gene provides instructions for making a protein that is involved in cell division. This protein is found in cells and tissues throughout the body; however, it appears to be particularly important for the division of cells in the developing brain.

What is autosomal recessive primary microcephaly?

Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for “microcephaly primary hereditary”) is a condition in which infants are born with a very small head and a small brain. The term “microcephaly” comes from the Greek words for “small head.”

What kind of gene did Walsh identify?

By that time, Walsh had also identified the gene—DCX— for another rare inherited neurological condition, “double cortex” syndrome. Mutations in both these genes result in abnormal neural migration during early development of the fetal brain.

Where is the ASPM gene located?

chromosome 1
ASPM is located on chromosome 1, band q31 (1q31). The ASPM gene contains 28 exons and codes for a 3477 amino‐acid‐long protein. The ASPM protein is conserved across species including human, mouse, Drosophila, and C.

What gene is associated with language?

Initially identified in 1998 as the genetic cause of a speech disorder in a British family designated the KE family, FOXP2 was the first gene discovered to be associated with speech and language and was subsequently dubbed “the language gene”.

Is microcephaly hereditary or environmental?

Microcephaly is an uncommon condition whose causes can be genetic or environmental (related to toxicity, radiation or infection). It is defined as a condition at birth in which the newborn’s head circumference is less than expected for age and sex.

Is autism a dominant or recessive gene?

The mutations are recessive, which means that they lead to autism only if a person inherits them in both copies of the gene — one from each parent, who are silent carriers. Most other mutations implicated in autism are spontaneous, or ‘de novo,’ mutations, which are not inherited.

Which chromosome is responsible for brain development?

the X chromosome
But the new findings suggest that the X chromosome, despite containing only 5 percent of the human genome, has a privileged role in shaping the brain — one that may be particularly relevant to developmental conditions.

Can language be passed down genetically?

Because language is inherited ‘vertically’ [from parents to children] like genes, and also changes ‘horizontally’ based on contact among populations, many researchers in genetics interpret analyses of DNA from different populations in the context of the languages the study populations speak.

Which parent carries the autistic gene?

Due to its lower prevalence in females, autism was always thought to have a maternal inheritance component. However, research also suggests that the rarer variants associated with autism are mostly inherited from the father.

Categories: FAQ