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Condition report · Neurological

Rett Syndrome

Rett syndrome is a neurodevelopmental disorder, mainly affecting girls, in which early development seems normal and is followed by loss of speech and purposeful hand use. Changes in the same gene, MECP2, cause related disorders, including MECP2 duplication syndrome and severe neonatal encephalopathy in boys.

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

Rett Syndrome

X-linked dominant · About 1 in 10,000 girls.

A neurodevelopmental disorder caused by MECP2 variants, usually new (de novo), with regression of language and hand skills, stereotyped hand movements, breathing irregularities and seizures.

What a diagnosis changes

Multidisciplinary care including seizure, breathing, scoliosis and nutrition management; trofinetide is FDA-approved for Rett syndrome.

Genes analysed

Also known as

Rett syndrome, atypical, X-linked dominant; Rett syndrome, preserved speech variant, X-linked dominant; Rett syndrome, X-linked dominant; Rett’s disease; RTS; RTT

MONDO:0010726OMIM 312750Orphanet 778MedGen 48441

MECP2 Duplication Syndrome (Lubs Type X-Linked Intellectual Disability)

X-linked recessive

An X-linked disorder mainly affecting boys, caused by duplication of MECP2, with intellectual disability, low muscle tone, seizures and recurrent infections.

What a diagnosis changes

Seizure and infection management and genetic counselling for mothers, who are often unaffected carriers.

Genes analysed

Also known as

distal duplication Xq; intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive; intellectual disability, X-linked, Lubs type (formerly); intellectual disability, X-linked, syndromic, Lubs type; intellectual disability, X-linked, with recurrent respiratory infections; Lubs X-linked intellectual disability syndrome; Lubs X-linked intellectual disability syndrome (formerly); Lubs X-linked mental retardation syndrome; Lubs X-linked mental retardation syndrome (formerly); MECP2 duplication syndrome; mental retardation, X-linked, Lubs type (formerly); mental retardation, X-linked, with recurrent respiratory infections; MRXSL; telomeric duplication Xq; XLMR syndrome, Lubs type; Xq28 (MECP2) duplication

Includes 2 related subtypes ↓
  • chromosome Xq28 duplication syndrome
  • distal Xq28 microduplication syndrome
MONDO:0010283OMIM 300260Orphanet 1762MedGen 337496

Severe Neonatal-Onset Encephalopathy with Microcephaly (MECP2)

A severe early-onset encephalopathy in boys caused by MECP2 variants, with small head size, breathing problems and seizures.

Genes analysed

Also known as

encephalopathy, neonatal severe, X-linked recessive; severe congenital encephalopathy due to MECP2 mutation; severe neonatal encephalopathy due to MECP2 mutations

MONDO:0010397OMIM 300673Orphanet 209370MedGen 409616

Example variants this report looks at

For each condition, a few of the variants ClinVar classifies under it, those with most review stars. Each page describes ClinVar's public record of the variant, never a result.

VariantGeneClinVar classificationReview status
A143DMECP2Pathogenic3 stars out of 4 reviewed by expert panel
A291VMECP2Likely pathogenic3 stars out of 4 reviewed by expert panel
c.1A>TMECP2Likely pathogenic3 stars out of 4 reviewed by expert panel

42 more variants under Rett Syndrome have a page. Every variant, by gene:

Limitations

  • Large MECP2 deletions and MECP2 duplications are copy number variants and are not detected by small-variant analysis. Mosaicism and X-inactivation can also make results harder to interpret in females.

Other neurological conditions

All conditions →

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