In:
American Journal of Medical Genetics Part A, Wiley, Vol. 176, No. 5 ( 2018-05), p. 1175-1179
Kurzfassung:
A 4‐year‐old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman–Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isodisomy of chromosome 1, which harbored a pathogenic c.1077dupT variant in ZMPSTE24 which predicts p.(Leu362fsX18). ZMPSTE24 is a zinc metalloproteinase that is involved in processing farnesylated proteins and pathogenic ZMPSTE24 variants cause accumulation of abnormal farnesylated forms of prelamin A. This, in turn, causes a spectrum of disease severity which is based on enzyme activity. The current patient has an intermediate form, which is a genocopy of severe Progeria.
Materialart:
Online-Ressource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v176.5
DOI:
10.1002/ajmg.a.38493
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2018
ZDB Id:
1493479-6
SSG:
12
