Microdeletion Syndrome 2q23.1
| Classification according to ICD-10 | |
|---|---|
| Q93.5 | Other deletions of a part of a chromosome |
| ICD-10 online (WHO version 2019) | |
The microdeletion syndrome 2q23.1 is a very rare congenital disease with the main characteristics of considerable intellectual disability , speech development delay , behavioral problems , short stature and seizures .
Synonyms are: Del (2) (q23.1); Monosomy 2q23.1; Pseudo Angelman Syndrome
The first description comes from the year 2007 by the human geneticist Janine Wagenstaller and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, so far 15 people have been reported. Nothing is known about an inheritance mechanism.
root cause
Of the disease are mutations in MBD5 - gene on chromosome 2 gene locus Q23.1 based, which for the methyl-CpG-binding domain encoded protein. 5
Clinical manifestations
Clinical criteria are:
- Mental disability
- Speech development disorder
- Facial abnormalities such as wide and open mouth, tent-shaped upper lip and prominent incisors
- Microcephaly
- Behavioral problems such as stereotypical behavior, hyperactivity, inappropriate laughter
- Brachydactyly , small hands and feet
- Short stature
- Seizures
Differential diagnosis
The Angelman syndrome and Kleefstra syndrome are to be distinguished .
literature
- DY Kwon, Z. Zhou: Trapping MBD5 to understand 2q23.1 microdeletion syndrome. In: EMBO molecular medicine. Volume 6, number 8, August 2014, pp. 993-994, doi: 10.15252 / emmm.201404324 , PMID 25001217 , PMC 4154127 (free full text).
- DY Kwon, Z. Zhou: Trapping MBD5 to understand 2q23.1 microdeletion syndrome. In: EMBO molecular medicine. Volume 6, number 8, August 2014, pp. 993-994, doi: 10.15252 / emmm.201404324 , PMID 25001217 , PMC 4154127 (free full text).
- SV Mullegama, JA Rosenfeld, C. Orellana et al .: Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. In: European Journal of Human Genetics . Volume 22, number 1, January 2014, pp. 57-63, doi: 10.1038 / ejhg.2013.67 , PMID 23632792 , PMC 3865402 (free full text).
Individual evidence
- ↑ a b c Microdeletion Syndrome 2q23.1. In: Orphanet (Rare Disease Database).
- ^ J. Wagenstaller, S. Spranger, B. Lorenz-Depiereux, B. Kazmierczak, M. Nathrath, D. Wahl, B. Heye, D. Glaser, V. Liebscher, T. Meitinger, TM Strom: Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. In: American Journal of Human Genetics . Volume 81, Number 4, October 2007, pp. 768-779, doi: 10.1086 / 521274 , PMID 17847001 , PMC 2227926 (free full text).
- ^ Mental retardation, autosomal dominant 1. In: Online Mendelian Inheritance in Man . (English)
- ↑ S. Jaillard, C. Dubourg, M. Gérard-Blanluet, A. Delahaye, L. Pasquier, C. Dupont, C. Henry, AC Tabet, J. Lucas, A. Aboura, V. David, B. Benzacken, S. Odent, E. Pipiras: 2q23.1 microdeletion identified by array comparative genomic hybridization: an emerging phenotype with Angelman-like features? In: Journal of Medical Genetics . Volume 46, number 12, December 2009, pp. 847-855, doi: 10.1136 / jmg.2008.058156 , PMID 18812405 , PMC 3236717 (free full text).
