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( T o p )
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I n f a n t i l e c e r e b r a l a n d c e r e b e l l a r a t r o p h y w i t h p o s t n a t a l p r o g r e s s i v e m i c r o c e p h a l y
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A p p e a r a n c e
F r o m W i k i p e d i a , t h e f r e e e n c y c l o p e d i a
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] 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 ]
^ "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 .
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Infantile_cerebral_and_cerebellar_atrophy_with_postnatal_progressive_microcephaly&oldid=1160059590 " C a t e g o r i e s : ● A u t o s o m a l r e c e s s i v e d i s o r d e r s ● R a r e g e n e t i c s y n d r o m e s ● S y n d r o m e s w i t h m i c r o c e p h a l y H i d d e n c a t e g o r i e s : ● C S 1 m a i n t : n u m e r i c n a m e s : a u t h o r s l i s t ● A r t i c l e s w i t h s h o r t d e s c r i p t i o n ● S h o r t d e s c r i p t i o n i s d i f f e r e n t f r o m W i k i d a t a
● T h i s p a g e w a s l a s t e d i t e d o n 1 4 J u n e 2 0 2 3 , a t 0 5 : 3 1 ( U T C ) . ● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n . ● P r i v a c y p o l i c y ● A b o u t W i k i p e d i a ● D i s c l a i m e r s ● C o n t a c t W i k i p e d i a ● C o d e o f C o n d u c t ● D e v e l o p e r s ● S t a t i s t i c s ● C o o k i e s t a t e m e n t ● M o b i l e v i e w
