CUL3-related neurodevelopmental disorder
Senast uppdaterad 10 okt 2023
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CUL3-related neurodevelopmental disorder is a condition that affects neurological and physical development. Children with CUL3-related neurodevelopmental disorder may have intellectual disability or specific learning disorders. They may also experience delayed development of speech and motor skills, such as sitting and walking. Some individuals with this condition may have autism spectrum disorder, a developmental condition that affects communication and social skills.
Beskrivning
CUL3-related neurodevelopmental disorder is a condition that affects neurological and physical development. Children with CUL3-related neurodevelopmental disorder may have intellectual disability or specific learning disorders. They may also experience delayed development of speech and motor skills, such as sitting and walking. Some individuals with this condition may have autism spectrum disorder, a developmental condition that affects communication and social skills.
Movement abnormalities can also occur in people with CUL3-related neurodevelopmental disorder. Affected individuals may have weak muscle tone (hypotonia) in childhood. In adulthood, they may develop involuntary muscle tensing (dystonia), rhythmic shaking (tremor), or other uncontrolled movements (spasms).
People with CUL3-related neurodevelopmental disorder can have distinctive facial features, including a long, triangular-shaped face; a large forehead; a large, rounded nose; small ears; deep-set eyes; or a pointed chin. Some affected individuals have a larger than normal head (macrocephaly).
Many people with CUL3-related neurodevelopmental disorder have hand and foot abnormalities. Hand abnormalities can include small pinky (fifth) fingers that curve inward (clinodactyly), narrow thumbs, underdevelopment of the muscle at the base of the thumb (thenar hypoplasia), or a single crease across the palm of the hand. Foot abnormalities can include high arches of the feet (pes cavus); bunions; fusion of the skin between some toes (cutaneous syndactyly); or joint deformities (contractures) in the ankles, feet, or toes. A few individuals with CUL3-related neurodevelopmental disorder have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis).
Some affected infants have a backflow of stomach acids into the esophagus (gastroesophageal reflux disease or GERD), which tends to go away after childhood. Rarely, recurrent seizures (epilepsy), congenital heart abnormalities, or genitourinary abnormalities occur in people with CUL3-related neurodevelopmental disorder.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant+New variant. More than one pattern can apply in different cases.
Related genes
Other names
NEDAUS
Neurodevelopmental disorder with or without autism or seizures
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Dyspraxi
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Autismspektrumstörningar
Autism spectrum disorder (ASD), commonly known as autism, affects the way that a person communicates with, and relates to, other people. The National Autistic Society defines autism as 'a lifelong developmental disability which affects how people communicate and interact with the world'. People with autism spectrum disorders usually need.
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Funktionell neurologisk störning
The term functional neurological disorder encompasses a wide range of symptoms that are often very debilitating. Doctors tend to categorise these symptoms according to their medical frame of reference, but often fail. Functional neurological disorders have no formal way of being diagnosed by doctors. They can, however, be treated. What are.
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Somatisering och funktionella störningar
Somatisering is no longer a commonly used term. What used to be considered somatising symptoms eller somatoform disorders are now more commonly termed "functional disorders" eller "functional symptoms". What are functional disorders (previously known as somatoform). This... Funktionell neurologisk störning Previously known as conversion disorder,.
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Tourette syndrom
Tourette syndrom is a condition that causes you to make involuntary movements or noises called tics. It tends to be associated with various other problems such as behavioural problems and attention deficit hyperactivity disorder (ADHD). It can often be well managed with psychological treatments and sometimes with medication. What is Tourette.
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Psykosomatiska störningar
Psychosomatic means mind (psyche) and body (soma). A psychosomatic disorder is a disease which involves both mind and body. What are psychosomatic disorders. Psychosomatic disorders are conditions which cause troublesome, distressing physical symptoms, caused by the autonomic nervous system not functioning correctly. The autonomic nervous system.
Vidare läsning och referenser
- CUL3-related neurodevelopmental disorder; MedlinePlus, National Library of Medicine.
- Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogne B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpal J, Jech R, Winkelmann J, Koprusakova MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bussmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Kruger E, Bezieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Kury S, Wang T. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941.
- Iwafuchi S, Kikuchi A, Endo W, Inui T, Aihara Y, Satou K, Kaname T, Kure S. A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder. Brain Dev. 2021 Feb;43(2):303-307. doi: 10.1016/j.braindev.2020.09.015. Epub 2020 Oct 21.
- Kato K, Miya F, Oka Y, Mizuno S, Saitoh S. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders. J Hum Genet. 2021 May;66(5):491-498. doi: 10.1038/s10038-020-00868-9. Epub 2020 Oct 31.
- Nakashima M, Kato M, Matsukura M, Kira R, Ngu LH, Lichtenbelt KD, van Gassen KLI, Mitsuhashi S, Saitsu H, Matsumoto N. De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. J Hum Genet. 2020 Sep;65(9):727-734. doi: 10.1038/s10038-020-0758-2. Epub 2020 Apr 27.
- Vincent KM, Bourque DK. A novel splice site CUL3 variant in a patient with neurodevelopmental delay. Brain Dev. 2023 Apr;45(4):244-249. doi: 10.1016/j.braindev.2023.01.003. Epub 2023 Jan 27.
Artikelhistorik
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10 okt 2023 | Senaste versionen
1 sept 2023 | Ursprungligen publicerad
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