Proud syndrome explained

Proud syndrome
Synonyms:Proud Levine Carpenter syndrome
Symptoms:intellectual disabilities, brain anomalies and seizures
Onset:Birth
Duration:Lifelong
Types:It belongs to a group of disorders which are associated with the ARX gene
Differential:Idiopathic intellectual disability
Prevention:none
Management:-->
Prognosis:Medium
Frequency:Very 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.

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]

Notes and References

  1. Web site: Proud syndrome - About the Disease - Genetic and Rare Diseases Information Center . 2022-06-13 . rarediseases.info.nih.gov . en.
  2. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Proud Levine Carpenter syndrome . 2022-06-13 . www.orpha.net . en.
  3. Web site: Sensory 5 . Proud syndrome Rare Diseases . 2022-06-13 . RareGuru . en.
  4. Web site: KEGG DISEASE: Proud syndrome . 2022-06-13 . www.genome.jp.
  5. Web site: OMIM Entry - # 300004 - CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA . 2022-06-13 . www.omim.org . en-us.
  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 . 10.1002/ajmg.1320430169 . 0148-7299 . 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 . 10.1002/ana.10119 . 0364-5134 . 11891829. 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 . 10.1002/humu.10310 . 1098-1004 . 14722918. 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 . 10.1093/brain/awp107 . 1460-2156 . 2685924 . 19439424.

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