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The true prevalence of PMS has not been determined. More than 1,200 people have been identified worldwide according to the Phelan–McDermid Syndrome Foundation. [65] However, it is believed to be underdiagnosed due to inadequate genetic testing and lack of specific clinical features. It is known to occur with equal frequency in males and females.
22q13 deletion syndrome (Phelan–McDermid syndrome) [4] is a condition caused by the deletion of the tip of the q arm on chromosome 22. Most individuals with this disorder experience cognitive delays, low muscle tone, and sleeping, eating, and behavioural issues.
This protein is highly expressed in the brain and is almost always deleted in Phelan-McDermid syndrome (PMS). MAPK8IP2 appears to regulate the ratio of AMPA receptors to NMDA receptors at glutamate synapses, [7] and thus may be an important contributor to the intellectual dysfunction and related neurological manifestations characteristic of PMS.
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Phelan-McDermid syndrome: 22q13 D Phenylketonuria: PAH: recessive 1:12,000 Pipecolic acidemia: AASDHPPT: recessive Pitt–Hopkins syndrome: TCF4 (18) dominant, de novo 1:11,000-41,000 Polycystic kidney disease: PKD1 (16) or PKD2 (4) P Polycystic ovary syndrome (PCOS) Porphyria: 1-100:50,000 Prader–Willi syndrome: 15: paternal imprinting 1: ...
Angelman's syndrome: Monogenic disorder: UBE3A: 15 34.0% (24.0–37.0) Cheerful demeanour, microcephaly, epilepsy, speech deficits, sleep disturbance, epilepsy, ID [1] [3] Phelan-McDermid syndrome: Monogenic disorder: SHANK3: 22 84% [in a single study composed by 32 participants] Molecularly defined [4] [8] Timothy syndrome: Monogenic disorder ...
SHANK proteins are scaffolding proteins at glutamatergic synapses crucial for synaptic development. The disruption of SHANK genes is associated with neurocognitive impairments and disorders. The disruptions, either from mutations or deletions, are associated with disorders such as Phelan-McDermid syndrome (PMS), schizophrenia, and ASD. SHANK 3 ...
Next, Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is a neurodevelopmental disorder with a high risk of autism spectrum disorder that was modeled in assembloids containing cortical and striatal organoids.