A dental approach to carrier screening in X linked hypohidrotic ectodermal dysplasia.
نویسنده
چکیده
The frequency of carriers of X linked hypohidrotic ectodermal dysplasia among females with hypodontia of the permanent dentition (excluding third molars) could be as high as 1 in 500, and among females with deciduous hypodontia could be as high as 1 in 50. Since it may be possible to identify carriers form among female hypodontia cases in general by virtue of a reduced sweat pore count, the potential exists for a reasonably practical method of screening for carriers at the population level.
منابع مشابه
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene
Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...
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 کاملSweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia.
X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assigning carrier status to at risk females in XHED families, and in obtaining an ac...
متن کاملA novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia.
X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormal development of the hair, teeth, and sweat glands. It is caused by mutations in the EDA gene, which maps to the X chromosome and encodes a protein called ectodysplasin-A, a member of the tumor necrosis factor-related ligand family. Affected males typically exhibit all the typical features of HED, but heterozygous car...
متن کاملEarly dental intervention in patients with X-linked hypohidrotic ectodermal dysplasia
Introduction Familiar or syndrome-associated hypo-, oligo or anodontia in children and adolescents demands for professional dental intervention, because poor dental function and aesthetics often result in psychosocial deprivation. Treatment challenges in these patients are to develop functionally and aesthetically acceptable intermediate solutions that strive for tooth and bone preservation and...
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عنوان ژورنال:
- Journal of medical genetics
دوره 18 6 شماره
صفحات -
تاریخ انتشار 1981