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In einer Arbeit aus Pakistan wurden 2 bekannte Familien hinsichtlich ihres
Genetik untersucht.

Interessanter Auszug:
Affected members (figures 1C, D) of family A showed hallmark features of HJMD. Scalp hairs were sparse and curly, with stunted growth since birth. At the time of the study, a younger brother (IV-1; eight years) (figure 1C) did not record any complaint of ocular manifestations. However, his elder brother (IV-2; 14 years) (figure 1D) had features of macular dystrophy. Affected members of family
B (figures 1E, F) displayed features of Hypotrichosis with slow-growing hairs on the scalp since birth. They had firmly-rooted fine and sparse hairs with persistently
visible scalp. At the time of the study, three affected members, IV-1 (five years), IV-12 (12 years) and IV-13 (eight years), did not show any observable abnormal ophthalmological features (figure 1B). In the same family, two other
affected members, including IV-6 (30 years) and IV-11 (18 years) (figure 1B), had problems with vision, which provided clear evidence of onset of macular dystrophy.
Despite several requests from the authors, affected members  in both the families (A and B) refused to undergo electroretinography examinations. Nails, teeth and sweating  were not affected in affected members in the two families.
Zur Veröffentlichung im Original:
novel_homozygous_sequence_variants_in_the_cdh3_gene_encoding_p_cadherin_underlying_hypotrichosis_with_juvenile_macular_dystrophy

In der Ausgabe Juni der >Achse Stimme<
http://www.achse-online.de/
wird über die HJMD ausführlich berichtet.

Die Ausgabe als Download per pdf:
Achse_Stimme_Juni_2016

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