Atypical Rett syndrome

A rare neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).



Input patient's signs and symptoms


Narrow down the case reports



Total: 25 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(43.3%)		 19623215
 Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
Jacob FD, Ramaswamy V, Andersen J, Bolduc FV.
Eur J Hum Genet. 2009;17(12):1577-81.
Microcephaly Synophrys
MECP2
Child, Preschool Chromosomes, Human, Pair 14 Females Forkhead Transcription Factors Gene Deletion Homo sapiens Infant Infant, Newborn Nerve Tissue Proteins Phenotype Pregnancy Rett Syndrome
2
(39.0%)		 29920362
 Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.
Vineeth VS, Dutta UR, Tallapaka K, Das Bhowmik A, Dalal A.
Gene. 2018;673:56-60.
Microcephaly
FOXG1 MECP2 NOVA1 PRKD1
Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 14 Developmental Disabilities Exome Females Fluorescent in Situ Hybridization Forkhead Transcription Factors Gene Expression Regulation Homo sapiens Microcephaly Nerve Tissue Proteins Neuro-Oncological Ventral Antigen Phenotype Protein Kinase C RNA-Binding Proteins Rett Syndrome Seizures Sequence Analysis, DNA Single Nucleotide Polymorphism
2
(39.0%)		 28781028
 Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation.
Harada K, Yamamoto M, Konishi Y, Koyano K, Takahashi S, Namba M, Kusaka T.
Brain Dev. 2018;40(1):49-52.
Microcephaly
c|SUB|T|569|A p|SUB|I|190|N
Brain Child, Preschool Forkhead Transcription Factors Gene Expression Regulation Hippocampus Proper Homo sapiens Infant Male Microcephaly Mutation Nerve Tissue Proteins Rett Syndrome
2
(39.0%)		 22968132
 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J.
Eur J Hum Genet. 2013;21(5):522-7.
Postnatal microcephaly
CDKL5 FOXG1 MECP2 PRKD1
c|DUP|256|C|;RS#:786205002 rs786205001
Child Chromosome Deletion Chromosomes, Human, Pair 14 Cytogenetic Analysis DNA Mutational Analysis Fatal Outcome Females Forkhead Transcription Factors Gene Expression Profiling Gene Expression Regulation Homo sapiens Male Microarray Analysis Nerve Tissue Proteins Phenotype Protein Kinase C Rett Syndrome
2
(39.0%)		 22129046
 FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.
Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, Tanaka H, Miyamoto A.
Clin Genet. 2012;82(6):569-73.
Microcephaly
CDKL5 FOXG1 MECP2 PARG
c|DUP|256|C| c|SUB|G|689|A;RS#:782668750 rs786205001 rs786205007
Asians Base Sequence Brain DNA Mutational Analysis Females Forkhead Transcription Factors Homo sapiens Magnetic Resonance Imaging Male Molecular Sequence Data Mutation Myelin Sheath Nerve Tissue Proteins Polymerase Chain Reaction Rett Syndrome
2
(39.0%)		 15875198
 Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.
Giampietro PF, Schowalter DB, Merchant S, Campbell LR, Swink T, Roa BB.
Childs Nerv Syst. 2006;22(3):320-4.
Microcephaly
MECP2
p|SUB|Q|128|P;RS#:61748383
Arnold Chiari Malformation Cerebellum Child Child, Preschool Diet, Carbohydrate-Restricted Females Homo sapiens Infant Ketone Bodies Ketosis Methyl-CpG-Binding Protein 2 Microcephaly Mutation Rett Syndrome Seizures Single Nucleotide Polymorphism
2
(39.0%)		 15689447
 CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A.
J Med Genet. 2005;42(2):103-7.
Microcephaly
ARX CDKL5 MECP2
c|DEL|163_166|GAAA;RS#:267608433 c|DEL|2635_2636|CT;RS#:61753251 rs267608433 rs61753251
Amino Acid Sequence Child DNA Mutational Analysis Females Homeodomain Proteins Homo sapiens Infant Molecular Sequence Data Protein-Serine-Threonine Kinases Rett Syndrome West Syndrome
2
(39.0%)		 10051171
 Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).
Gustavsson P, Kimber E, Wahlstrom J, Anneren G.
Am J Med Genet. 1999;82(4):348-51.
Microcephaly
Child Chromosome Deletion Chromosomes, Human, Pair 18 Dinucleotide Repeats Females Homo sapiens Monosomy Rett Syndrome Syndrome
9
(23.3%)		 29366381
 An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A.
Epperson MV, Haws ME, Standridge SM, Gilbert DL.
J Child Neurol. 2018;33(4):286-289.
Seizure Scoliosis
CACNA1A
Calcium Channel Females Homo sapiens Missense Mutation Phenotype Rett Syndrome
9
(23.3%)		 16182490
 Clinical profile of a male with Rett syndrome.
Budden SS, Dorsey HC, Steiner RD.
Brain Dev. 2005;27 Suppl 1:S69-S71.
Osteoporosis Scoliosis
rs61748390
Child Homo sapiens Male Methyl-CpG-Binding Protein 2 Mutation Rett Syndrome Sex Chromosome Aberrations
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000154 Wide mouth Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0000430 Underdeveloped nasal alae Very frequent (99-80%)
HP:0000445 Wide nose Very frequent (99-80%)
HP:0000787 Nephrolithiasis Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001231 Abnormal fingernail morphology Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001257 Spasticity Very frequent (99-80%)
HP:0002020 Gastroesophageal reflux Very frequent (99-80%)
HP:0002119 Ventriculomegaly Very frequent (99-80%)
HP:0002120 Cerebral cortical atrophy Very frequent (99-80%)
HP:0002213 Fine hair Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0002376 Developmental regression Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0007360 Aplasia/Hypoplasia of the cerebellum Very frequent (99-80%)
HP:0009896 Abnormality of the antitragus Very frequent (99-80%)
HP:0012471 Thick vermilion border Very frequent (99-80%)
HP:0100022 Abnormality of movement Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 11

HPO ID Term # of case reports
HP:0001250 Seizures 7
HP:0001298 Encephalopathy 2
HP:0200134 Epileptic encephalopathy 2
HP:0000252 Microcephaly 1
HP:0000717 Autism 1
HP:0001251 Ataxia 1
HP:0001288 Gait disturbance 1
HP:0002376 Developmental regression 1
HP:0002650 Scoliosis 1
HP:0005484 Postnatal microcephaly 1
HP:0025517 Hypoplastic hippocampus 1


Causative gene(s) retrieved from Orphanet

    Total: 6

Gene Symbol Gene Name Entrez Gene ID
MECP2 methyl-CpG binding protein 2 4204
FOXG1 forkhead box G1 2290
NTNG1 netrin G1 22854
CDKL5 cyclin dependent kinase like 5 6792
STXBP1 syntaxin binding protein 1 6812
GABBR2 gamma-aminobutyric acid type B receptor subunit 2 9568