Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands

Seymen, Figen; Koruyucu, Mine; Toptancı, İsmet Rezani; Balsak, Selahattin; Dedeoğlu, Serkan; Çelepkolu, Tahsin; Shin, Teo Jeon; Hyun, Hong‐Keun; Kim, Young-Jae; Kim, Jung-Wook

doi:10.1007/s00784-016-1771-x

Cited by 16 publications

(19 citation statements)

References 16 publications

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“…Although there is a clear association between Fgf10 mutations and lung malformation in mouse, such is not evident in humans. The two most familiar conditions associated with human FGF10 mutations are autosomal dominant aplasia of lacrimal and salivary glands (ALSG) (Entesarian et al., 2005; Seymen et al., 2017) and lacrimo-auriculo-dento-digital syndrome (LADD) (Milunsky et al., 2006; Rohmann et al., 2006), with both conditions lacking a primary lung complication. LADD patients also harbor mutations in the FGFR2 and FGFR3 genes (Rohmann et al., 2006), suggesting that additional FGFs may be contributing factors to the syndrome.…”

Section: Fgfs and Fgfrs Mutations Are Associated With Human Lung Disementioning

confidence: 99%

FGF Signaling in Lung Development and Disease: Human Versus Mouse

2019

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Fibroblast growth factor 10 (FGF10) plays an important role in mouse lung development, injury, and repair. It is considered the main morphogen driving lung branching morphogenesis in rodents. While many studies have found FGF10 SNPs associated with COPD and branch variants in COPD smokers, there is no evidence of a causative role for FGF10 or these SNPs in human lung development and pediatric lung diseases. We and others have shown divergent roles for FGF10 in mouse lung development and early human lung development. Herein, we only review the existing literature on FGF signaling in human lung development and pediatric human lung diseases, comparing what is known in mouse lung to that in human lung.

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Section: Fgfs and Fgfrs Mutations Are Associated With Human Lung Disementioning

confidence: 99%

FGF Signaling in Lung Development and Disease: Human Versus Mouse

2019

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“…Patients with ALSG (aplasia of the lacrimal and major salivary glands) exhibit both salivary and lacrimal phenotypes, and this rare disorder is caused by loss-of-function mutations in FGF10 ( Entesarian et al, 2007 ; Scheckenbach et al, 2008 ; Seymen et al, 2017 ). ALSG patients suffer from xerostomia and dental decay, eye irritation, and epiphora (excessive tearing).…”

Section: Role Of Fgf10 In Craniofacial Morphogenesismentioning

confidence: 99%

Bones, Glands, Ears and More: The Multiple Roles of FGF10 in Craniofacial Development

et al. 2018

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Members of the fibroblast growth factor (FGF) family have myriad functions during development of both non-vertebrate and vertebrate organisms. One of these family members, FGF10, is largely expressed in mesenchymal tissues and is essential for postnatal life because of its critical role in development of the craniofacial complex, as well as in lung branching. Here, we review the function of FGF10 in morphogenesis of craniofacial organs. Genetic mouse models have demonstrated that the dysregulation or absence of FGF10 function affects the process of palate closure, and FGF10 is also required for development of salivary and lacrimal glands, the inner ear, eye lids, tongue taste papillae, teeth, and skull bones. Importantly, mutations within the FGF10 locus have been described in connection with craniofacial malformations in humans. A detailed understanding of craniofacial defects caused by dysregulation of FGF10 and the precise mechanisms that underlie them offers new opportunities for development of medical treatments for patients with birth defects and for regenerative approaches for cancer patients with damaged gland tissues.

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“…The latter is characterized by hearing loss and malformations of the ears and digits in addition to the symptoms of aplasia of the lacrimal and salivary glands. 15,29,32,34 As an FGF10 mutation is the cause of other syndromes associated with aplasia of the salivary glands, and given that FGF10 is involved in the morphogenesis of many craniofacial structures that are classically affected in trisomy 21 and other chromosomal abnormalities, it may not be too far-fetched to suggest that disruption of this pathway may have had a role in the wide spectrum of craniofacial abnormalities in other chromosomal abnormalities linked to nonvisualization of the parotid gland in our study.…”

Section: Discussionmentioning

confidence: 79%

“…[29][30][31] Mutations in FGF10 have been found to cause numerous developmental defects and abnormalities in humans, such as malformations and agenesis of involved organs. 31,32 In mouse models, FGF10-null embryos show aplasia of the salivary glands, with their development arrested at the bud stage. Other abnormalities caused by disruption of FGF10 expression in mice include anomalies of the inner ear, teeth, limbs, midface, thyroid, pituitary gland, thymus, stomach, pancreas, and genitourinary system.…”

Section: Discussionmentioning

confidence: 99%

“…Fibroblast growth factor 10 signaling plays important roles in the development of several craniofacial structures, including the salivary glands, lacrimal glands, palate, eyelids, inner ear, tongue, teeth, and skull 29–31 . Mutations in FGF10 have been found to cause numerous developmental defects and abnormalities in humans, such as malformations and agenesis of involved organs 31,32 . In mouse models, FGF10‐null embryos show aplasia of the salivary glands, with their development arrested at the bud stage.…”

Section: Discussionmentioning

confidence: 99%

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First‐Trimester Nonvisualization of the Parotid Gland and Aneuploidy in Fetuses With Increased Nuchal Translucency

Perlman

Sukenik‐Helevy

Odeh³

et al. 2020

J of Ultrasound Medicine

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Objectives-Aplasia and hypoplasia of the major salivary glands, particularly the parotid glands, were reported to be associated with trisomy 21. This study aimed to evaluate the value of first-trimester nonvisualization of the parotid gland in a high-risk population of fetuses with increased nuchal translucency (NT). Methods-A single-center prospective observational cohort study was conducted. The feasibility of imaging the parotid gland was assessed in 100 sequential cases of routine low-risk NT scans. In a 2-dimensional image in an axial plane at the level of the fetal mandible, the parotid glands appear as bilateral hyperechoic round areas. Cases referred for counseling for an NT measured above the 95th percentile for gestational age were evaluated for visualization of the parotid glands. Prenatal findings were correlated with fetal genetic analysis results. Results-Forty-two cases with increased NT constituted the final study group. Within the group with nonvisualization of the parotid gland, genetic testing revealed 9 cases of trisomy 21, 3 cases of trisomy 18, and 1 case of monosomy X. The sensitivity and specificity of nonvisualization of the parotid gland as a predictor of aneuploidy were 76% and 80%, respectively. The positive likelihood ratio, negative likelihood ratio, and relative risk were 3.82 (95% confidence interval [CI], 1.67-8.74), 0.29 (95% CI, 0.12-0.71), and 4.33 (95% CI, 1.69-11.09; P < .01). The negative predictive value was 95.14%. Conclusions-First-trimester nonvisualization of the parotid gland may constitute a potential method for detection of aneuploid fetuses within a high-risk population.

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Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands

Abstract: Identification of the genetic etiology of the ALSG will help both the family members and dentist understand the nature of the disorder. Therefore, it will positively motivate oral health care to avoid further destruction of the tooth due to the lack of salivary production.

Cited by 16 publications

References 16 publications

FGF Signaling in Lung Development and Disease: Human Versus Mouse

FGF Signaling in Lung Development and Disease: Human Versus Mouse

Bones, Glands, Ears and More: The Multiple Roles of FGF10 in Craniofacial Development

First‐Trimester Nonvisualization of the Parotid Gland and Aneuploidy in Fetuses With Increased Nuchal Translucency

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