Phenotypic heterogeneity of ZMPSTE24 deficiency

被引：10

作者：

Cassini, Thomas A. ^{[1
,2
]}

Robertson, Amy K. ^{[2
]}

Bican, Anna G. ^{[2
]}

Cogan, Joy D. ^{[2
]}

Hannig, Vickie L. ^{[2
]}

Newman, John H. ^{[1
]}

Hamid, Rizwan ^{[2
]}

Phillips, John A., III ^{[2
]}

机构：

[1] Vanderbilt Univ, Med Ctr, Dept Med, 1211 21st Ave S Ste 2, Nashville, TN 37212 USA

[2] Vanderbilt Univ, Med Ctr, Dept Pediat, Nashville, TN 37232 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2018年 / 176卷 / 05期

关键词：

mandibuloacral dysplasia; progeria; restrictive dermopathy; undiagnosed diseases network (udn); uniparental disomy; zmpste24; deficiency; COMPOUND HETEROZYGOUS MUTATIONS; RESTRICTIVE DERMOPATHY; MANDIBULOACRAL DYSPLASIA; LAMIN-A; GENE; LAMINOPATHY; PROGERIA;

D O I：

10.1002/ajmg.a.38493

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1175 / 1179

页数：5

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