Phenotypic heterogeneity of ZMPSTE24 deficiency.
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ABSTRACT:
SUBMITTER: Cassini TA
PROVIDER: S-EPMC5911413 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Publications
Phenotypic heterogeneity of ZMPSTE24 deficiency.
Cassini Thomas A TA Robertson Amy K AK Bican Anna G AG Cogan Joy D JD Hannig Vickie L VL Newman John H JH Hamid Rizwan R Phillips John A JA
American journal of medical genetics. Part A 20180117 5
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 prote ...[more]
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