Lubs X-Linked Mental Retardation Syndrome (MRXSL)

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OMIM 57 300260 Disease Ontology 12 DOID:0060799 MeSH 44 C537723 D038901 NCIt 50 C126747

MedGen 42 C1846058 C1300260 SNOMED-CT via HPO 69 204878001 204888000 14582003 422775003 13649004 271611007 95515009 275480001 69056000 11934000 21061000119107 35489007 78667006 48694002 391987005 412786000 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 85102008 22325002 84445001 288939007 40739000 14760008 225595004 16331000 235595009 698065002 16046003 271700006 275295002 53827007 62718007 123983008 252157006 255314001 191983006 90207007 128545000 237836003 40700009 62211000119103 more UMLS 73 C1846058 C3714043

NIH Rare Diseases : ⁵³ MECP2 duplicationsyndrome is a severe neurological and developmental disorder. Signs and symptoms include low muscle tone (hypotonia) in infancy, developmental delay, severe intellectual disability, and progressive spasticity. Other signs and symptoms may include recurrent respiratory infections and seizures. Some people with MECP2 duplication syndrome may have autistic features, gastrointestinal problems, and/or mildly distinctive facial features. The syndrome is caused by having an extra copy (duplication) of the MECP2 gene, and inheritance is X-linked. The syndrome almost always occurs in males (who have one X chromosome), but some females with the duplication on one of their two X chromosomes have some signs or symptoms. Rarely, females may have severe signs and symptoms, similar to those in males with the syndrome. Treatment is individualized and based on the signs and symptoms in each person. Treatment may involve routine management of feeding difficulties, infections, developmental delays, spasticity, and seizures. Respiratory infections are a major cause of death, with only half of people surviving past 25 years of age.

MalaCards based summary : Lubs X-Linked Mental Retardation Syndrome, also known as mecp2 duplication syndrome, is related to mental retardation, x-linked, syndromic 13 and chromosome xq28 duplication syndrome, and has symptoms including seizures, ataxia and constipation. An important gene associated with Lubs X-Linked Mental Retardation Syndrome is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways is Tuberculosis. Affiliated tissues include eye and brain, and related phenotypes are macrocephaly and malar flattening

Disease Ontology : ¹² A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has material basis in duplication or triplication of the MECP2 gene on chromosome Xq28.

Genetics Home Reference : ²⁵ MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, or muscle stiffness (rigidity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. About half of individuals have seizures, often of the tonic-clonic type. This type of seizure involves a loss of consciousness, muscle rigidity, and convulsions and may not respond to medication. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately half of individuals learn to walk, and about one-third of people with this condition require assistance when walking. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with only half surviving past age 25.

OMIM : ⁵⁷ MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as anxiety. Submicroscopic Xq28 duplications encompassing MECP2 are considered nonrecurrent events, because the breakpoint locations and rearrangement sizes vary among affected individuals (summary by Ramocki et al., 2010). (300260)

UniProtKB/Swiss-Prot : ⁷⁵ Mental retardation, X-linked, syndromic, Lubs type: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge.

GeneReviews: NBK1284

Clinical features from OMIM:

300260

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