Proud syndrome

Last updated
Proud syndrome
Other namesProud Levine Carpenter syndrome
Agenesis.jpg
Specialty Medical genetics
Symptoms intellectual disabilities, brain anomalies and seizures
Usual onsetBirth
DurationLifelong
TypesIt belongs to a group of disorders which are associated with the ARX gene
Causes Genetic mutation
Differential diagnosis Idiopathic intellectual disability
Preventionnone
Prognosis Medium
FrequencyVery rare, only 37 cases have been described in medical literature
Deaths-

Proud syndrome is a very rare genetic disorder which is characterized by severe intellectual disabilities, corpus callosum agenesis, epilepsy, and spasticity. It is a type of syndromic X-linked intellectual disability.

Contents

Signs and symptoms

The following list comprises the symptoms this disorder causes: [1] [2]

Symptoms list consists of combined information from GARD and OrphaNet, people with the disorder may not always have all the symptoms.

Causes

This condition is caused by X-linked recessive mutations in the ARX gene, in chromosome Xp21.3. Affected males often have symptoms which are more severe than the rare affected females. [3] This gene is thought to be important in interneuronal migration, neuronal proliferation and embryonic brain and testes differentiation. [4]

Epidemiology

According to OMIM, [5] only 37 cases have been described in medical literature. [6] [7] [8] [9]

References

  1. ↑ "Proud syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on December 15, 2016. Retrieved 2022-06-13.
  2. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Proud Levine Carpenter syndrome". www.orpha.net. Retrieved 2022-06-13.{{cite web}}: CS1 maint: numeric names: authors list (link)
  3. ↑ Sensory 5. "Proud syndrome | Rare Diseases". RareGuru. Retrieved 2022-06-13.{{cite web}}: CS1 maint: numeric names: authors list (link)
  4. ↑ "KEGG DISEASE: Proud syndrome". www.genome.jp. Retrieved 2022-06-13.
  5. ↑ "OMIM Entry - # 300004 - CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA". www.omim.org. Retrieved 2022-06-13.
  6. ↑ Proud, V. K.; Levine, C.; Carpenter, N. J. (April 15 – May 1, 1992). "New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum". American Journal of Medical Genetics. 43 (1–2): 458–466. doi:10.1002/ajmg.1320430169. ISSN   0148-7299. PMID   1605226.
  7. ↑ Bonneau, Dominique; Toutain, Annick; Laquerrière, Annie; Marret, Stéphane; Saugier-Veber, Pascale; Barthez, Marie-Anne; Radi, Sophie; Biran-Mucignat, Valérie; Rodriguez, Diana; Gélot, Antoinette (March 2002). "X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings". Annals of Neurology. 51 (3): 340–349. doi:10.1002/ana.10119. ISSN   0364-5134. PMID   11891829. S2CID   11071504.
  8. ↑ Kato, Mitsuhiro; Das, Soma; Petras, Kristin; Kitamura, Kunio; Morohashi, Ken-Ichirou; Abuelo, Diane N.; Barr, Mason; Bonneau, Dominique; Brady, Angela F.; Carpenter, Nancy J.; Cipero, Karen L. (February 2004). "Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation". Human Mutation. 23 (2): 147–159. doi:10.1002/humu.10310. ISSN   1098-1004. PMID   14722918. S2CID   37481508.
  9. ↑ Marsh, Eric; Fulp, Carl; Gomez, Ernest; Nasrallah, Ilya; Minarcik, Jeremy; Sudi, Jyotsna; Christian, Susan L.; Mancini, Grazia; Labosky, Patricia; Dobyns, William; Brooks-Kayal, Amy (June 2009). "Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females". Brain: A Journal of Neurology. 132 (Pt 6): 1563–1576. doi:10.1093/brain/awp107. ISSN   1460-2156. PMC   2685924 . PMID   19439424.
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