Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | |
|---|---|
 | |
| Specialty | Medical genetics |
| Prevention | None |
| Frequency | Higher among Jewish families in Caucasus, Israel |
| Deaths | - |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare hereditary autosomal recessive malformation syndrome of the central nervous system characterized by profound motor delays and intellectual disabilities, progressive microcephaly, hypertonia, spasticity, clonus and epilepsy. MRI findings include severe cerebellar and cerebral deterioration (atrophy) and impaired myelination.[1][2][3][4][5] This condition is an example of consequences from the Founder effect, especially that of Jewish populations.[6][7]
It has been described in 5 infants from 4 Israeli families of ethnic Caucasus Jewish descent. The genetic cause was found to be a homozygous mutation of the MED17 gene, located in chromosome 11, this mutation is called L371P.[8]
In vitro functional expression assays of the L371P mutation showed that it results in a functionally inactive MED17 protein.[8]
References[edit]
- ^ "Postnatal progressive microcephaly, seizures, and brain atrophy - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-14.
- ^ "PomBase". www.pombase.org. Retrieved 2022-07-14.
- ^ "Helpful information about | Eugene Australia". eugenelabs.com. Retrieved 2022-07-14.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly". www.orpha.net. Retrieved 2022-07-14.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "ZFIN Human Disease: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly". zfin.org. Retrieved 2022-07-14.
- ^ "Entry- #613668 - MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY - OMIM". omim.org. Retrieved 2022-07-14.
- ^ "Infantile Cerebral and Cerebellar Atrophy". Jewish Genetic Disease Consortium. Retrieved 2022-07-14.
- ^ a b Kaufmann, Rami; Straussberg, Rachel; Mandel, Hanna; Fattal-Valevski, Aviva; Ben-Zeev, Bruria; Naamati, Adi; Shaag, Avraham; Zenvirt, Shamir; Konen, Osnat; Mimouni-Bloch, Aviva; Dobyns, William B. (2010-11-12). "Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex". American Journal of Human Genetics. 87 (5): 667–670. doi:10.1016/j.ajhg.2010.09.016. ISSN 1537-6605. PMC 2978946. PMID 20950787.