Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome

Disease Models & Mechanisms
Beverly A KarpinskiAnthony-S LaMantia

Abstract

We assessed feeding-related developmental anomalies in the LgDel mouse model of chromosome 22q11 deletion syndrome (22q11DS), a common developmental disorder that frequently includes perinatal dysphagia--debilitating feeding, swallowing and nutrition difficulties from birth onward--within its phenotypic spectrum. LgDel pups gain significantly less weight during the first postnatal weeks, and have several signs of respiratory infections due to food aspiration. Most 22q11 genes are expressed in anlagen of craniofacial and brainstem regions critical for feeding and swallowing, and diminished expression in LgDel embryos apparently compromises development of these regions. Palate and jaw anomalies indicate divergent oro-facial morphogenesis. Altered expression and patterning of hindbrain transcriptional regulators, especially those related to retinoic acid (RA) signaling, prefigures these disruptions. Subsequently, gene expression, axon growth and sensory ganglion formation in the trigeminal (V), glossopharyngeal (IX) or vagus (X) cranial nerves (CNs) that innervate targets essential for feeding, swallowing and digestion are disrupted. Posterior CN IX and X ganglia anomalies primarily reflect diminished dosage of the 22q11DS candida...Continue Reading

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Citations

Nov 12, 2015·Developmental Biology·Anthony-Samuel LaMantiaAnastas Popratiloff
Mar 19, 2016·Developmental Biology·Beverly A KarpinskiAnthony-S LaMantia
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Apr 14, 2015·Progress in Neurobiology·Daniel W MeechanAnthony-S LaMantia
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Jun 9, 2019·Journal of Neurodevelopmental Disorders·Zahra MotahariAnthony-Samuel LaMantia
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Mar 17, 2021·Disease Models & Mechanisms·Beverly A KarpinskiAnthony-Samuel LaMantia
Jun 3, 2021·International Journal of Environmental Research and Public Health·Han-Na Kim, Ji-Youn Kim
Aug 12, 2021·Disease Models & Mechanisms·Beverly A KarpinskiAnthony-Samuel LaMantia

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Datasets Mentioned

BETA
NM175475

Methods Mentioned

BETA
PCR
delamination

Software Mentioned

ImageJ

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22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

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