What is Lubs X-Linked Intellectual Developmental Disorder (MRXSL)?
Lubs X-Linked Intellectual Developmental Disorder, also known as MECP2 Duplication Syndrome, is a rare genetic condition. This progressive disorder causes symptoms to worsen as time passes.
The syndrome primarily affects males. Affected individuals often have a short life expectancy, with over 50% dying before the age of 25 years old.
The main symptoms of the syndrome are neurological and developmental.
This syndrome is also known as:
MECP2 Duplication Syndrome; Mental Retardation, X-linked, Syndromic; Lubs Type Mental Retardation, X-linked, with Recurrent Respiratory Infections
What gene change causes Lubs X-Linked Intellectual Developmental Disorder (MRXSL)?
It is caused by the presence of an extra copy of the MECP2 gene. However, other gene variants of X-linked Intellectual Developmental Disorder should be considered, up to date, 56 genes have been described.
It is an X-linked recessive disorder. This means females are carriers and may show very mild symptoms of the syndrome.
Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene, causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosomes males have. Males tend to have more severe symptoms than females.
What are the main symptoms of Lubs X-Linked Intellectual Developmental Disorder (MRXSL)?
Common symptoms of the syndrome include low muscle tone and progressive spasticity.
Developmental delay as well as severe intellectual disability are also major features of the syndrome. Some individuals are diagnosed with autistic features and behaviors.
Other health conditions associated with the syndrome include respiratory infections that reoccur frequently and are the leading cause of the lowered life expectancy in affected individuals. Seizures are also common.
Possible clinical traits/features:
Macrotia, Narrow mouth, Intellectual disability, Low-set ears, Abnormality of metabolism/homeostasis, Infantile muscular hypotonia, Microcephaly, Macrocephaly, Tented upper lip vermilion, Rigidity, Progressive spasticity, Recurrent respiratory infections, Severe global developmental delay, X-linked recessive inheritance, Progressive, Growth delay, Gastroesophageal reflux, Depressed nasal bridge, Seizure, Poor eye contact, Cryptorchidism, Constipation, Facial hypotonia, Malar flattening, Depressivity, Dysphagia, Drooling, Brachycephaly, Bruxism, Anxiety, Absent speech, Abnormality of the dentition, Ataxia, Chorea.
How is it diagnosed?
To find out if someone has a diagnosis of Lubs X-Linked Intellectual Developmental Disorder (MRXSL), it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
