Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.
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چکیده
منابع مشابه
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.
Indirect molecular diagnosis of X linked hypohidrotic ectodermal dysplasia (XLHED), a congenital disorder of hair, teeth, and eccrine sweat glands, has been possible by linkage analysis. Direct mutation detection would enable carrier detection in female relatives of sporadic cases, as well as help distinguish XLHED from the rarer, clinically indistinguishable, autosomal recessive disorder ARHED...
متن کاملPossible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia has been mapped to Xq11-q13 by linkage studies and by a translocation in a manifesting female. We report a family with hypohidrotic ectodermal dysplasia in which the disease did not segregate with this region of the X chromosome as expected. Ten DNA probes which are localised between Xp11 and Xq22 were used in the investigation. The difficulties in diagnosing t...
متن کاملLung and eye involvement in X-linked hypohidrotic ectodermal dysplasia
Objective X-linked hypohidrotic ectodermal dysplasia (XLHED; ectodysplasin deficiency) has been classically described as affecting hair, sweat glands and dentition. What may be underappreciated is the effect ectodysplasin deficiency has on glands surrounding the airways and eyes and the resulting chronic health issues. In this study, we evaluated respiratory and ocular symptoms in XLHED patients.
متن کاملDetection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia (EDA) has been localised to the q12-q13.1 region of the X chromosome by both physical and genetic mapping methods. Although linkage analysis using closely linked flanking markers can clarify the carrier status for many females at risk for the disorder, knowledge of the origin of the mutation in instances of possible de novo mutation is critical for accurate gen...
متن کاملClinical aspects of X-linked hypohidrotic ectodermal dysplasia.
Boys with X-linked hypohidrotic ectodermal dysplasia and their families were studied. Many suffered severe illness in early childhood and nearly 30% died; many had feeding problems, severe fever, atopic disease, and recurrent respiratory infections. Some infants failed to thrive. We found no consistent common endocrine or immunological abnormality, although, most had abnormal immunoglobulin pro...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1998
ISSN: 1468-6244
DOI: 10.1136/jmg.35.2.112