Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

{{Infobox medical condition

|name = Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

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|image = Autosomal recessive - en.svg

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|specialty = Medical genetics

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|prevention = None

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|frequency = Higher among Jewish families in Caucasus, Israel

|deaths = -

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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.{{Cite web |title=Postnatal progressive microcephaly, seizures, and brain atrophy - About the Disease - Genetic and Rare Diseases Information Center |url=https://rarediseases.info.nih.gov/diseases/10995/postnatal-progressive-microcephaly-seizures-and-brain-atrophy/ |access-date=2022-07-14 |website=rarediseases.info.nih.gov |language=en}}{{Cite web |title=PomBase |url=https://www.pombase.org/term/MONDO:0013351 |access-date=2022-07-14 |website=www.pombase.org}}{{Cite web |title=Helpful information about {{!}} Eugene Australia |url=https://eugenelabs.com/carrier/conditions/postnatal-progressive-microcephaly-with-seizures-and-brain-atrophy |access-date=2022-07-14 |website=eugenelabs.com}}{{Cite web |last=RESERVED |first=INSERM US14-- ALL RIGHTS |title=Orphanet: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402364 |access-date=2022-07-14 |website=www.orpha.net |language=en}}{{Cite web |title=ZFIN Human Disease: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |url=https://zfin.org/DOID:0111262 |access-date=2022-07-14 |website=zfin.org}} This condition is an example of consequences from the Founder effect, especially that of Jewish populations.{{Cite web |title=Entry- #613668 - MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY - OMIM |url=https://omim.org/entry/613668 |access-date=2022-07-14 |website=omim.org |language=en-us}}{{Cite web |title=Infantile Cerebral and Cerebellar Atrophy |url=https://www.jewishgeneticdiseases.org/diseases/infantile-cerebral-cerebellar-atrophy/ |access-date=2022-07-14 |website=Jewish Genetic Disease Consortium |language=en-US}}

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.{{Cite journal |last=Kaufmann |first=Rami |last2=Straussberg |first2=Rachel |last3=Mandel |first3=Hanna |last4=Fattal-Valevski |first4=Aviva |last5=Ben-Zeev |first5=Bruria |last6=Naamati |first6=Adi |last7=Shaag |first7=Avraham |last8=Zenvirt |first8=Shamir |last9=Konen |first9=Osnat |last10=Mimouni-Bloch |first10=Aviva |last11=Dobyns |first11=William B. |date=2010-11-12 |title=Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex |journal=American Journal of Human Genetics |volume=87 |issue=5 |pages=667–670 |doi=10.1016/j.ajhg.2010.09.016 |issn=1537-6605 |pmc=2978946 |pmid=20950787}}

In vitro functional expression assays of the L371P mutation showed that it results in a functionally inactive MED17 protein.