MECP2-related disorder

MedGen UID:: 1849909
•Concept ID:: C5880921
•: Disease or Syndrome

Synonyms:	MECP2-related condition; MECP2-related disorders
SNOMED CT:	Methyl-CpG (cytosine phosphate guanine) binding protein-2 disorder (1296869000); MECP2 (methyl-cytosine phosphate guanine binding protein-2) disorder (1296869000); Methyl-cytosine phosphate guanine binding protein-2 related disorder (1296869000); Methyl-CpG binding protein 2 related disorder (1296869000); MECP2 related disorder (1296869000)

Professional guidelines

PubMed

Exploring the Clinical Utility of Targeted MECP2 Testing in Real-World Practice.

Kim SY, Woo H, Lim BC, Kim KJ, Chae JH
Pediatr Neurol 2024 Dec;161:28-33. Epub 2024 Aug 14 doi: 10.1016/j.pediatrneurol.2024.08.001. PMID: 39255539

Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.

Kalman LV, Tarleton JC, Percy AK, Aradhya S, Bale S, Barker SD, Bayrak-Toydemir P, Bridges C, Buller-Burckle AM, Das S, Iyer RK, Vo TD, Zvereff VV, Toji LH
J Mol Diagn 2014 Mar;16(2):273-9. Epub 2014 Feb 7 doi: 10.1016/j.jmoldx.2013.11.004. PMID: 24508304 Free PMC Article

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Recent clinical studies

Etiology

Surgery for foot deformities in MECP2 disorders: prevalence and risk factors.

Kanashvili B, Shrader MW, Rogers KJ, Miller F, Howard JJ
J Pediatr Orthop B 2024 Jan 1;33(1):48-52. Epub 2023 Feb 24 doi: 10.1097/BPB.0000000000001067. PMID: 36847194

Genetic disorders associated with postnatal microcephaly.

Seltzer LE, Paciorkowski AR
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):140-55. Epub 2014 May 16 doi: 10.1002/ajmg.c.31400. PMID: 24839169

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