Vocal cord immobility as a cause of aphonia in a child with 3p13p12 deletion syndrome encompassing FOXP1 gene

Albayrak, Hatice Mutlu; Karaer, Kadri

doi:10.1016/j.ijporl.2018.11.024

Cited by 4 publications

(3 citation statements)

References 10 publications

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“…Subsequently, several large-scale high-throughput sequencing studies have uncovered that de novo, likely genedisrupting mutations in FOXP1 are among the most significantly recurrent mutations in ASD or ID/NDD cohorts (Coe et al, 2019;Coe et al, 2014;Iossifov et al, 2014;Stessman et al, 2017). To date, over 40 pathogenic variants have been documented, and distinctive neurodevelopmental phenotypes associated with FOXP1 mutations have emerged from the many published case reports (Le Fevre et al, 2013;Mutlu-Albayrak & Karaer, 2019;Palumbo et al, 2013;Sollis et al, 2016;Song, Makino, Noguchi, & Arinami, 2015;Thevenon et al, 2014;Urreizti et al, 2018;Vuillaume et al, 2018;Yamamoto-Shimojima, Okamoto, Matsumura, Okazaki, & Yamamoto, 2019). As with FOXP2 mutations, it is again important to note that these FOXP1 mutations may result in haploinsufficiency or dominant negative effects of mutant proteins, and further functional work is needed to disentangle the molecular mechanisms leading to patient phenotypes.…”

Section: Foxp1 Mutations Cause a Severe Global Nddmentioning

confidence: 99%

FOXP transcription factors in vertebrate brain development, function, and disorders

Anderson

Konopka

2020

WIREs Developmental Biology

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FOXP transcription factors are an evolutionarily ancient protein subfamily coordinating the development of several organ systems in the vertebrate body. Association of their genes with neurodevelopmental disorders has sparked particular interest in their expression patterns and functions in the brain. Here, FOXP1, FOXP2, and FOXP4 are expressed in distinct cell type‐specific spatiotemporal patterns in multiple regions, including the cortex, hippocampus, amygdala, basal ganglia, thalamus, and cerebellum. These varied sites and timepoints of expression have complicated efforts to link FOXP1 and FOXP2 mutations to their respective developmental disorders, the former affecting global neural functions and the latter specifically affecting speech and language. However, the use of animal models, particularly those with brain region‐ and cell type‐specific manipulations, has greatly advanced our understanding of how FOXP expression patterns could underlie disorder‐related phenotypes. While many questions remain regarding FOXP expression and function in the brain, studies to date have illuminated the roles of these transcription factors in vertebrate brain development and have greatly informed our understanding of human development and disorders. This article is categorized under: Nervous System Development > Vertebrates: General Principles Gene Expression and Transcriptional Hierarchies > Gene Networks and Genomics Nervous System Development > Vertebrates: Regional Development

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Section: Foxp1 Mutations Cause a Severe Global Nddmentioning

confidence: 99%

FOXP transcription factors in vertebrate brain development, function, and disorders

Anderson

Konopka

2020

WIREs Developmental Biology

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“…2). 7,8,11,13,[16][17][18][19][20] Clinical features more commonly reported in this comparison were development delay, facial dysmorphia, high broad forehead, short stature, downslanting palpebral fissures, hypertelorism, central nervous system (CNS) malformation, increased reflexes, feeding difficulties, short nose, low-set ears, increased muscle tone, neurosensory deafness, heart malformation, and urogenital anomalies. The previous report did not describe relative macrocephaly, unexpected location Mongolian spot, and augmented internipple distance.…”

Section: Discussionmentioning

confidence: 84%

Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature

et al. 2020

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Copy number variation in loss of 3p13 is an infrequently reported entity characterized by hypertelorism, aniridia, microphthalmia, high palate, neurosensorial deafness, camptodactyly, heart malformation, development delay, autism spectrum disorder, seizures, and choanal atresia. The entity is caused probably by haploinsufficiency for FOXP1, UBA3, FAM19A1, and MITF. We report a newborn male with hypotonia, facial dysmorphism, heart malformation, and without clinical diagnosis; nevertheless, the use of appropriate genetic test, such us the chromosomal microarray analysis allowed identification of a copy number variant in loss of 5.5 Mb at chromosome 3 (p13-p14.1), that included 54 genes, encompassing FOXP1 gene. We compare the findings in our Peruvian patient to those of earlier reported patients; furthermore, add new signs for this entity.

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“…The FOXP1 (forkhead box P1) gene (MIM * 605515) codifies for a member of the forkhead box family of transcriptional factors playing important roles in the regulation of gene transcription from early development through adulthood (1,2). The identification of deletions encompassing FOXP1 (3)(4)(5)(6)(7)(8)(9)(10)(11) and loss-of-function variants of this gene in individuals with a consistent clinical phenotype (12)(13)(14)(15)(16)(17)(18)(19)(20) has led to the conclusion that FOXP1 haploinsufficiency is the molecular basis for the core features of "FOXP1-related intellectual disability (ID) syndrome" (MIM #613670). In addition to ID (mostly mild to moderate), the clinical phenotype of this condition includes a global developmental delay mainly affecting language, autistic spectrum disorder (ASD), behavioral disorders, facial dysmorphisms, ophthalmological anomalies, and cardiac and genitourinary anomalies (21)(22)(23).…”

Section: Introductionmentioning

confidence: 99%

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

et al. 2023

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ObjectiveWe aimed to report on previously unappreciated clinical features associated with FOXP1-related intellectual disability (ID) syndrome, a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and language delay, with or without autistic features.MethodsWe performed whole-exome sequencing (WES) to molecularly characterize an individual presenting with ID, epilepsy, autism spectrum disorder, behavioral problems, and facial dysmorphisms as major features.ResultsWES allowed us to identify a previously unreported de novo splice site variant, c.1429-1G>T (NM_032682.6), in the FOXP1 gene (OMIM*605515) as the causative event underlying the phenotype. Clinical reassessment of the patient and revision of the literature allowed us to refine the phenotype associated with FOXP1 haploinsufficiency, including hyperkinetic movement disorder and flat angiomas as associated features. Interestingly, the patient also has an asymmetric face and choanal atresia and a novel de novo variant of the CHD7 gene.ConclusionWe suggest that FOXP1-related ID syndrome may also predispose to the development of hyperkinetic movement disorders and flat angiomas. These features could therefore require specific management of this condition.

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Vocal cord immobility as a cause of aphonia in a child with 3p13p12 deletion syndrome encompassing FOXP1 gene

Cited by 4 publications

References 10 publications

FOXP transcription factors in vertebrate brain development, function, and disorders

FOXP transcription factors in vertebrate brain development, function, and disorders

Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

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