期刊
JOURNAL OF MEDICAL GENETICS
卷 38, 期 11, 页码 761-766出版社
BRITISH MED JOURNAL PUBL GROUP
DOI: 10.1136/jmg.38.11.761
关键词
lymphoedema; distichiasis; forkhead gene; clinical heterogeneity
资金
- NIDCR NIH HHS [P60 DE013076-020005, R01 DE014667, P60 DE013076-010005, P60 DE013076-050005, P60 DE013076-030005, R01 DE014667-02, P60 DE013076-03S10005, R01 DE014667-03, 1P60DE13086-01, P60 DE013076-01S10005, R01 DE014667-01, P60 DE013076, R01 DE014667-04, P60 DE013076-040005] Funding Source: Medline
Background-Hereditary lymphoedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as lymphoedema of the limbs, with variable age of onset, and extra aberrant growth of eyelashes from the Meibomian gland (distichiasis). Other major reported complications include cardiac defects, cleft palate, and extradural cysts. Photophobia, exotropia, ptosis, congenital ectropion, and congenital cataracts are additional eye findings. Recently, we reported that truncating mutations in the forkhead transcription family member FOXC2 resulted in LD in two families. Methods-The clinical findings in seven additional families with LD, including the original family described by Falls and Kertesz, were determined and mutational analyses were performed. Results-Distichiasis was the most common clinical feature followed by age dependent lymphoedema. There is a wide variation of associated secondary features including tetralogy of Fallot and cleft palate. The mutational analyses identified truncating mutations in all of the families studied (two nonsense, one deletion, three insertion, and one insertion-deletion), which most likely result in haploinsufficiency of FOXC2. Conclusions-FOXC2 mutations are highly penetrant with variable expressivity which is not explicable by the pattern of mutations.
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