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MECP2

Synonyms
AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT
External resources
Summary
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
20
Likely pathogenic
1
VUS
2,658
Likely benign
12,246
Benign
2,075

Patient phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on MECP2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
85.7%
Abnormality of the musculoskeletal system
52.4%
Abnormality of head or neck
38.1%
Growth abnormality
14.3%
Abnormality of the eye
9.5%
Abnormality of the genitourinary system
9.5%
Abnormality of the immune system
9.5%
Abnormality of the integument
9.5%
Abnormal cellular phenotype
4.8%
Abnormality of limbs
4.8%
Abnormality of the digestive system
4.8%
Abnormality of the ear
4.8%
Abnormality of the endocrine system
4.8%
Abnormality of the respiratory system
4.8%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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