2q37 deletion syndrome

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Alternate names

Chromosome 2q37 deletion syndrome; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-Intellectual disability syndrome

Definition

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

2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. At least 115 cases have been reported worldwide.

Cause

  • 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

  • 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

  • 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

* 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

References

  1. 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.
  2. 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

2q37 deletion syndrome is a rare disease.


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