Macrocephaly Autism Syndrome

Last update 08 May 2025

Basic Info

Synonyms

MACROCEPHALY/AUTISM SYNDROME, Macrocephaly Autism Syndrome, 大头畸形自闭症综合征

Introduction-

Clinical Trials associated with Macrocephaly Autism Syndrome

NCT06462430

/ RecruitingNot ApplicableIIT

Genotype-phenotype Correlations of Pediatric Patients With PTEN Hamartoma Tumor Syndrome (PHTS) and Creation of Patient Registry

PtenTurkiye.org' is a national ( Turkish), web-based registry for PTEN Hamartoma Tumour ( PHTS) syndrome established in 2022. It is designed to increase awareness, gather scientific knowledge by collaboration and increase data accessibility, collect high-quality data on the epidemiology, genetic background and natural history of PHTS especially for pediatric patients so that more accurate follow up guidelines can be recommended.

Start Date01 Nov 2022

Sponsor / Collaborator

Acibadem Üniversitesi

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100 Clinical Results associated with Macrocephaly Autism Syndrome

100 Translational Medicine associated with Macrocephaly Autism Syndrome

0 Patents (Medical) associated with Macrocephaly Autism Syndrome

Literatures (Medical) associated with Macrocephaly Autism Syndrome

01 Jan 2025·Biological Psychiatry Global Open Science

GABA/Glutamate Neuron Differentiation Imbalance and Increased AKT/mTOR Signaling in CNTNAP2−/− Cerebral Organoids

Article

Author: Moschovas, Dimitrios ; Gkogkas, Christos G ; Samiotaki, Martina ; Voudouri, Georgia ; Zafeiri, Maria ; Avgeropoulos, Apostolos ; Statoulla, Elpida ; Chalkiadaki, Kleanthi ; Amvrosiadis, Theoklitos ; Theodoridou, Niki ; Typou, Alexandra ; Mason, John O

BackgroundThe polygenic nature of autism spectrum disorder (ASD) requires the identification of converging genetic pathways during early development to elucidate its complexity and varied manifestations.MethodsWe developed a human cerebral organoid model from induced pluripotent stem cells with targeted genome editing to abolish protein expression of the CNTNAP2 ASD risk gene.ResultsCNTNAP2^-/- cerebral organoids displayed accelerated cell cycle, ventricular zone disorganization, and increased cortical folding. Proteomic analysis revealed disruptions in glutamatergic/GABAergic (gamma-aminobutyric acidergic) synaptic pathways and neurodevelopment, and transcriptomic analysis revealed differentially expressed genes belonging to inhibitory neuron-related gene networks. Interestingly, there was a weak correlation between the 2 datasets, suggesting nuanced translational control mechanisms. Along these lines, we found upregulated AKT/mTOR (mechanistic target of rapamycin) signaling in CNTNAP2^-/- organoids. Spatial transcriptomic analysis of CNTNAP2^-/- ventricular-like zones demonstrated pervasive changes in gene expression, implicating upregulation of cell cycle regulation, synaptic, and glutamatergic/GABAergic pathways. We noted significant overlap of all day-30 organoid omics datasets differentially expressed genes from idiopathic ASD (macrocephaly) induced pluripotent stem cell-derived telencephalic organoids, where FOXG1 was upregulated. Moreover, we detected increased GAD1-expressing and decreased TBR1-expressing cells, suggesting altered GABAergic/glutamatergic neuron development.ConclusionsThese findings potentially highlight a shared mechanism in the early cortical development of various forms of ASD, further elucidate the role of CNTNAP2 in ASD pathophysiology and cortical development, and pave the way for targeted therapies that use cerebral organoids as preclinical models.

01 Feb 2013·Autism ResearchQ2 · MEDICINE

Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism

Q2 · MEDICINE

Article

Author: Sharifi‐Hannauer, Pantea ; Martinez‐Agosto, Julian A. ; Klein, Steven

An association between autism and macrocephaly has been previously described. A subset of cases with extreme macrocephaly (>3 standard deviation [SD], 99.7th percentile) have been correlated to mutations in the gene phosphatase and tensin homolog (PTEN). However, the phenotypic and genetic characterization of the remaining cases remains unclear. We report the phenotypic classification and genetic testing evaluation of a cohort of 33 patients with autism and macrocephaly. Within our cohort, we confirm the association of PTEN mutations and extreme macrocephaly (>3 SD, 99.7th percentile) and identify mutations in 22% of cases, including three novel PTEN mutations. In addition, we define three phenotypic subgroups: (a) those cases associated with somatic overgrowth, (b) those with disproportionate macrocephaly, and (c) those with relative macrocephaly. We have devised a novel way to segregate patients into these subgroups that will aide in the stratification of autism macrocephaly cases. Within these subgroups, we further expand the genetic etiologies for autism cases with macrocephaly by describing two novel suspected pathogenic copy number variants located at 6q23.2 and 10q24.32. These findings demonstrate the phenotypic heterogeneity of autism cases associated with macrocephaly and their genetic etiologies. The clinical yield from PTEN mutation analysis is 22% and 9% from chromosomal microarray (CMA) testing within this cohort. The identification of three distinct phenotypic subgroups within macrocephaly autism patients may allow for the identification of their respective distinct genetic etiologies that to date have remained elusive. Autism Res 2013, ●●: ●●–●●. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.

15 Feb 2003·American Journal of Medical Genetics Part C: Seminars in Medical GeneticsQ3 · MEDICINE

Mental deficiency, alterations in performance, and CNS abnormalities in Overgrowth syndromes

Q3 · MEDICINE

Review

Author: Cohen, M Michael

AbstractMental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson‐Golabi‐Behmel syndrome, hemihyperplasia, Sturge‐Weber syndrome, Bannayan‐Riley‐Ruvalcaba/Cowden syndrome, macrocephaly‐autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes. © 2003 Wiley‐Liss, Inc.

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Macrocephaly Autism Syndrome

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