RETT SYNDROME (RTT)

Question 1

What is  RETT SYNDROME (RTT)?

Accepted Answer

rare (1:10.000 - 1:15.000 females)
X-linked dominant
mutations of the X-linked MECP2 gene
Rett syndrome is one of the most common causes of mental retardation in girls
Most RTT cases are sporadic, familial cases are rare

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Rett-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 312750

Question 4

Which enzymes are involved?

Accepted Answer

Methyl-CpG-binding protein 2

Disease	RETT SYNDROME (RTT)
Synonym	RTT; AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE
OMIM	312750 OMIM = Online Mendelian Inheritance of Men
Orphanet	778
Protein (UniProt)	Methyl-CpG-binding protein 2
Gene locus	Xq28
ICD	F84.2
Summary	rare (1:10.000 - 1:15.000 females) X-linked dominant mutations of the X-linked MECP2 gene Rett syndrome is one of the most common causes of mental retardation in girls Most RTT cases are sporadic, familial cases are rare
Laboratory findings	Glutamic acid inc (cerebrospinal fluid) L-Lactic acid normal/inc (cerebrospinal fluid) Orotic acid inc (urine) Pyruvic acid inc (cerebrospinal fluid) Very-long-chain fatty acids dec (serum)
Symptoms	Amino acid, spinal fluid apnea ataxia behavior, autism or autistic-like bone age, advanced cardiac arrhythmia, dysrhythmia constipation cortical or cerebral atrophy dystonia EEG abnormalities [-] female hand movements, abnormal, stereotyped hypertonia, spasticity lethargy, drowsiness, apathy mental retardation microcephaly (<2 SD for age) motor retardation normal at birth onset, childhood onset, infancy respiratory alkalosis seizures short stature skoliosis, kyphoskoliosis speech development, delayed, abnormal tachypnea, hyperpnea, dyspnea, hyperventilation