2q37 deletion syndrome
Alternate names[edit | edit source]
Chromosome 2q37 deletion syndrome; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-Intellectual disability syndrome
Definition[edit | edit source]
2q37 deletion syndrome is a chromosome disease that can affect many parts of the body.2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2.
Epidemiology[edit | edit source]
2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. At least 115 cases have been reported worldwide.
Cause[edit | edit source]
- 2q37 deletion syndrome is caused by deletions of genetic material from a specific region in the long (q) arm of chromosome 2.
- The deletions occur near the end of the chromosome at a location designated 2q37.
- The size of the deletion varies among affected individuals, with most affected people missing 2 million to 9 million DNA building blocks (also written as 2 Mb to 9 Mb).
- Researchers are working to identify all of the genes whose loss contributes to the features of 2q37 deletion syndrome.
- Many of these genes have not been well characterized.
- However, genes in this region appear to be critical for the normal development of many parts of the body.
- Researchers have determined that loss of a particular gene on chromosome 2, called HDAC4, is likely to account for many of the syndrome's characteristic signs (such as intellectual disability and skeletal abnormalities).
- While the deleted segment in 2q37 deletion syndrome varies in size, it always contains the HDAC4 gene.
- Additionally, a few people with mutations in only the HDAC4 gene have many of the features of 2q37 deletion syndrome.
- It is unclear what role the other genes on 2q37 play in this disorder.
Inheritance[edit | edit source]
- Most cases of 2q37 deletion syndrome are not inherited.
- They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.
- Affected people typically have no history of the disorder in their family.
- Rarely, an affected individual inherits a copy of chromosome 2 with a deleted segment from an affected parent. In these cases, the parent is usually less severely affected than the child, for reasons that are unknown.
- When an affected child inherits a chromosomal deletion from a parent, it is inherited in an autosomal dominant pattern, which means one copy of the altered chromosome in each cell is sufficient to cause the disorder.
Signs and symptoms[edit | edit source]
- Most babies with 2q37 deletion syndrome are born with low muscle tone (hypotonia), which usually improves with age.
- About 25% of those with this syndrome have autism, a developmental condition that affects communication and social interaction.
- The characteristic facial features include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities.
Other features can include:
- Short stature
- Obesity
- Scoliosis
- Tracheomalacia
- Unusually short fingers and toes (brachymetaphalangy), especially of the fingers 3-5
- Sparse hair
- Heart defects
- Seizures
- A skin disorder called eczema
- A few people with 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor.
- Some individuals with 2q37 deletion syndrome can also have malformations of the brain, gastrointestinal system, kidneys, and/or genitalia.
Diagnosis[edit | edit source]
- Chromosome analysis confirms the diagnosis of 2q37 deletion syndrome in 80%-85% of affected individuals.[1].
* In about 15%-20% of cases the small size of the deleted region can only be detected using deletion analysis (which relies on a variety of methods).
- In some individuals, 2q37 microdeletion syndrome results from chromosome rearrangements involving 2q37 (e.g., chromosome 2 inversion, ring chromosome 2, or translocation between chromosome 2 and another chromosome).
- Mutation of HDAC4 has been proposed as causative for most of the features of the 2q37 microdeletion syndrome.
- Several affected individuals without microdeletions had inactivating mutation of HDAC4, a gene in the 2q37 deleted region, leading to the proposal that mutation of this gene may be causative for most of the features of the 2q37 microdeletion syndrome.
Treatment[edit | edit source]
- Multidisciplinary care by specialists in the following fields is often required: clinical genetics, speech pathology, occupational and physical therapy, child development, neurology, cardiology, gastroenterology, nutrition/feeding, ophthalmology, and audiology.
- Infants benefit from enrollment in an early-intervention program; most school-age children benefit from an individualized educational program (IEP).[2].
References[edit | edit source]
- ↑ Doherty ES, Lacbawan FL. 2q37 Microdeletion Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2007 May 3 [updated 2013 Jan 31]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301337.
- ↑ Doherty ES, Lacbawan FL. 2q37 Microdeletion Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2007 May 3 [updated 2013 Jan 31]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301337.
NIH genetic and rare disease info[edit source]
2q37 deletion syndrome is a rare disease.
2q37 deletion syndrome Resources | ||
---|---|---|
|
|
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Deepika vegiraju