2q37 deletion syndrome

2q37 deletion syndrome
Other names: Brachydactyly-intellectual disability syndrome
2q37 deletion syndrome is inherited in an autosomal dominant manner

2q37 deletion syndrome (or Albright hereditary osteodystrophy-like syndrome[1])is a disorder caused by the deletion of a small piece of chromosome 2 in which one or more of 3 sub-bands, 2q37.1, 2q37.2, and 2q37.3, of the last band of one of the chromosome 2’s long arms are deleted.[2] The first report of this disorder was in 1989.[2]

Symptoms and signs

Forward prominence of the entire forehead, due to protrusion of the frontal bone[1][3]

The earliest signs and symptoms occur in newborns and consist of hypotonia, but show up in youth as developmental delays, low muscle tone, learning disabilities, being overweight, autism-like symptoms, seizures, eczema, asthma, chest and ear infections, and abnormalities in face, hands, and feet such as brachydactyly.[4][5]

Autism-like symptoms consist of odd obsessions, repetitive behavior, poor use of eye contact, impaired speech, poor understanding of others’ emotions, idiosyncratic use of words or phrases.[5]

People with this disorder also tend to have a characteristic appearance, including prominent forehead, thin, highly arched eyebrows, depressed nasal bridge, full cheeks, deficient nasal alae and prominent columella, thin upper lip, and various minor anomalies of the pinnae.[6]

Heart, brain, gastrointestinal, and kidney problems such as Wilms tumor,[7] and hernias, spinal curvatures, osteopenia, hearing and sight difficulties can also occur.[5]

Cause

In terms of the etiology 2q37 deletion syndrome, we find that omissions in the long (q) arm of chromosome 2 occur; particularly the loss of HDAC4[8][1]

Diagnosis

Techniques used to diagnose this disorder are fluorescence in situ hybridization (FISH) and microarrays.[5] FISH uses fluorescent dyes to visualize sections under a microscope, but some changes are too small to see.[5] Microarray comparative genomic hybridization (array CGH) shows changes in small amounts DNA on chromosomes.[5]

Treatment

Therapy can help developmental delays, as well as physiotherapy for the low muscle tone.[5] Exercise and healthy eating can reduce weight gain. Treatments are available for seizures, eczema, asthma, infections, and certain bodily ailments.

Prognosis

While only a few adults have been reported with 2q37 microdeletion syndrome, it is predicted that this number will rise as various research studies continue to demonstrate that most with the disorder do not have a shortened life span.[9]

See also

References

  1. 1 2 3 "2q37 deletion syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 20 September 2023.
  2. 1 2 Leroy C.; E. Landais; S. Briault; A. David; O. Tassy; N. Gruchy; B. Delobel; M. J. Grégoire; B. Leheup; L. Taine; D. Lacombe; M.A. Delrue; A. Toutain; A. Paubel; F. Mugneret; C. Thauvin-Robinet; S. Arpin; C. Le Caignec; P. Jonveaux; M. Beri; N. Leporrier; J. Motte; C. Fiquet; O. Brichet; M. Mozelle-Nivoix; P. Sabouraud; N. Golovkine; N. Bednarek; D. Gaillard; M. Doco-Fenzy (Jun 2013). "The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients". European Journal of Human Genetics. 21 (6): 602–12. doi:10.1038/ejhg.2012.230. PMC 3658200. PMID 23073310.
  3. ↑ "Forehead/prominent". elementsofmorphology.nih.gov. Retrieved 20 September 2023.
  4. ↑ Chaabouni M, Le Merrer M, Raoul O, et al. (2006). "Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region". European Journal of Medical Genetics. 49 (3): 255–63. doi:10.1016/j.ejmg.2005.07.001. PMID 16762827.
  5. 1 2 3 4 5 6 7 "2q37 deletion syndrome" (PDF). Rare Chromosome Disorder Support Group. Archived from the original (PDF) on 18 May 2015. Retrieved 8 April 2015.
  6. ↑ Falk, R.E. & K. A. Casas (15 Nov 2007). "Chromosome 2q37 deletion: Clinical and molecular aspects". American Journal of Medical Genetics. 145C (4): 357–371. doi:10.1002/ajmg.c.30153. PMID 17910077. S2CID 25719005.
  7. ↑ Viot-Szoboszlai G, Amiel J, Doz F, et al. (1998). "Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome". Clin. Genet. 53 (4): 278–80. doi:10.1111/j.1399-0004.1998.tb02696.x. PMID 9650765. S2CID 22222281.
  8. ↑ "HDAC4 gene: MedlinePlus Genetics". medlineplus.gov. Archived from the original on 20 September 2023. Retrieved 20 September 2023.
  9. ↑ Emily S Doherty & Felicitas L Lacbawan (3 May 2007). "2q37 Microdeletion Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". 2q37 Microdeletion Syndrome. GeneReviews. University of Washington, Seattle. p. 18. PMID 20301337. Archived from the original on 4 June 2020. Retrieved 8 April 2015.
Classification
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