Autosomal dominant macroglossia in two unrelated families

Reynoso, M. C.; Hernández, Alfonso Buendía; Soto, Fernando Martínez-Pereda; García-Cruz, O; Martínez, R Martínez y; Cantú, J M

doi:10.1007/bf00282095

Cited by 21 publications

(3 citation statements)

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“… 1 There are nearly 10,000 RDs that cumulatively affect over 5% of the global population, about 400 million people, thus exacting a high global health burden. 4 Their phenotype spectrum is extremely diverse, ranging from mild, for example, Inherited Macroglossia, 5 , 6 to severe, for example, Huntington's chorea 7 , 8 or adenosine deaminase—severe combined immunodeficiency (ADA‐SCID). 9 , 10 Approx.…”

Section: Introductionmentioning

confidence: 99%

Clinical applications of gene therapy for rare diseases: A review

Owen

Yáñez‐Muñoz

2023

Int J Experimental Path

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Rare diseases collectively exact a high toll on society due to their sheer number and overall prevalence. Their heterogeneity, diversity, and nature pose daunting clinical challenges for both management and treatment. In this review, we discuss recent advances in clinical applications of gene therapy for rare diseases, focusing on a variety of viral and non‐viral strategies. The use of adeno‐associated virus (AAV) vectors is discussed in the context of Luxturna, licenced for the treatment of RPE65 deficiency in the retinal epithelium. Imlygic, a herpes virus vector licenced for the treatment of refractory metastatic melanoma, will be an example of oncolytic vectors developed against rare cancers. Yescarta and Kymriah will showcase the use of retrovirus and lentivirus vectors in the autologous ex vivo production of chimeric antigen receptor T cells (CAR‐T), licenced for the treatment of refractory leukaemias and lymphomas. Similar retroviral and lentiviral technology can be applied to autologous haematopoietic stem cells, exemplified by Strimvelis and Zynteglo, licenced treatments for adenosine deaminase‐severe combined immunodeficiency (ADA‐SCID) and β‐thalassaemia respectively. Antisense oligonucleotide technologies will be highlighted through Onpattro and Tegsedi, RNA interference drugs licenced for familial transthyretin (TTR) amyloidosis, and Spinraza, a splice‐switching treatment for spinal muscular atrophy (SMA). An initial comparison of the effectiveness of AAV and oligonucleotide therapies in SMA is possible with Zolgensma, an AAV serotype 9 vector, and Spinraza. Through these examples of marketed gene therapies and gene cell therapies, we will discuss the expanding applications of such novel technologies to previously intractable rare diseases.

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Section: Introductionmentioning

confidence: 99%

Clinical applications of gene therapy for rare diseases: A review

Owen

Yáñez‐Muñoz

2023

Int J Experimental Path

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“…There are two interesting cases reports in relevant literature of two families with macroglossia due to dominant autosomal heredity 50 . Besides, macroglossia is an unusual but potentially fatal post-operative complication that might follow endocranial neurosurgical procedures in the posterior cranial fossa.…”

Section: O R I G I N a L A R T I C L Ementioning

confidence: 99%

Macroglossia

Topouzelis

Iliopoulos

Kolokitha

2011

International Dental Journal

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Macroglossia is defined as an enlarged tongue and it is usually clinically diagnosed. Pseudomacryglossia concerns a tongue that is of normal size but gives a false impression of being too large in relation to adjacent anatomical structures. The causes of macroglossia are numerous and this is why various classifications have been proposed for this condition. The consequences of macroglossia usually include a possible malfunction of the stomatognathic system, breathing and speech problems, increased mandible size, tooth spacing, diastema and other orthodontic abnormalities. The treatment of macroglossia depends on its aetiology and generally includes correcting the systemic disease underlying the increase in lingual mass, surgical treatment, radiotherapy and treatment of orthodontic abnormalities that might have been caused by the condition.

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“…There are few systematic investigations of the patterns of inter-individual and inter-population variation (especially normal variation) in the structure of the various components of the vocal tract (e.g., [ 10 – 19 ]), but the available information suggests that this is probably under-appreciated. Moreover, there are indications that some of this variation has a genetic component [ 20 – 23 ], but that environmental factors, such as the mechanical properties of food, also play a role [ 24 , 25 ]. Recent investigations have also indicated that anatomical variation in the VT might result in articulatory accommodation with or without audible effects on speech production [ 26 – 34 ].…”

Section: Introductionmentioning

confidence: 99%

Modelling human hard palate shape with Bézier curves

2018

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People vary at most levels, from the molecular to the cognitive, and the shape of the hard palate (the bony roof of the mouth) is no exception. The patterns of variation in the hard palate are important for the forensic sciences and (palaeo)anthropology, and might also play a role in speech production, both in pathological cases and normal variation. Here we describe a method based on Bézier curves, whose main aim is to generate possible shapes of the hard palate in humans for use in computer simulations of speech production and language evolution. Moreover, our method can also capture existing patterns of variation using few and easy-to-interpret parameters, and fits actual data obtained from MRI traces very well with as little as two or three free parameters. When compared to the widely-used Principal Component Analysis (PCA), our method fits actual data slightly worse for the same number of degrees of freedom. However, it is much better at generating new shapes without requiring a calibration sample, its parameters have clearer interpretations, and their ranges are grounded in geometrical considerations.

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Autosomal dominant macroglossia in two unrelated families

Abstract: Two unrelated families, one with 15 and the other with 3 members affected with macroglossia as a sole trait, are described. It is concluded that this entity differs from previously reported syndromes presenting macroglossia and is inherited in an autosomal dominant fashion.

Cited by 21 publications

References 1 publication

Clinical applications of gene therapy for rare diseases: A review

Clinical applications of gene therapy for rare diseases: A review

Macroglossia

Modelling human hard palate shape with Bézier curves

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