CUL3-related neurodevelopmental disorder
अंतिम अद्यतन 10 Oct 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.
विवरण
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
Related patient information and medicines
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अधिक पठन और संदर्भ
- 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.
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