X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by defects in the EDA gene that inactivate the function of ectodysplasin A1 (EDA1). This leads to abnormal development of eccrine glands, hair follicles, and teeth, and to frequent respiratory infections. Previous studies in the naturally occurring dog model demonstrated partial prevention of the XLHED phenotype by postnatal administration of recombinant EDA1. The results suggested that a single or two temporally spaced injections of EDI200 prenatally might improve the clinical outcome in the dog model. Fetuses received ultrasound-guided EDI200 intra-amniotically at gestational days 32 and 45, or 45 or 55 alone (of a 65-day pregnancy). Growth rates, lacrimation, hair growth, meibomian glands, sweating, dentition, and mucociliary clearance were compared in treated and untreated XLHED-affected dogs, and in heterozygous and wild-type control dogs. Improved phenotypic outcomes were noted in the earlier and more frequently treated animals. All animals treated prenatally showed positive responses compared with untreated dogs with XLHED, most notably in the transfer of moisture through paw pads, suggesting improved onset of sweating ability and restored meibomian gland development. These results exemplify the feasibility of ultrasound-guided intra-amniotic injections for the treatment of developmental disorders, with improved formation of specific EDA1-dependent structures in dogs with XLHED.
Case series summaryThe congenital midline defects of peritoneopericardial diaphragmatic hernia (PPDH) and omphalocele are believed to be related developmental defects, and have both been described in cats and dogs. This case series describes multiple cases of PPDH and omphalocele in related cats. The majority of cats affected with midline defects (PPDH or omphalocele) were male, consistent with previous reports of male overrepresentation.Relevance and novel informationThis is the first report of a family of Persian cats affected by PPDH and/or omphalocele. Clinical findings and pedigree information are suggestive of an autosomal recessive mode of inheritance. However, other modes of inheritance cannot be ruled out owing to limited sample size. The findings in this family and previous reports of Persians affected by PPDH warrant further investigation. Based on this information, recommendations for breeding populations of Persians and long-haired cats should include thoracic radiographs to screen for PPDH until a DNA-based genetic test is available.
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