PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype

被引：11

作者：

Starr, Lois J. ^{[1
]}

Spranger, Juergen W. ^{[2
]}

Rao, Vamshi K. ^{[3
]}

Lutz, Richard ^{[1
]}

Yetman, Anji T. ^{[1
]}

机构：

[1] Univ Nebraska Med Ctr, Childrens Hosp & Med Ctr, Dept Pediat, Omaha, NE USA

[2] Johannes Gutenberg Univ Mainz, Childrens Hosp, Mainz, Germany

[3] Northwestern Univ, Dept Pediat, Ann & Robert H Lurie Childrens Hosp Chicago, Feinberg Sch Med,Div Neurol, Chicago, IL 60611 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2019年 / 179卷 / 07期

关键词：

bone lesion; developmental delay; inherited glycosylphosphatidylinositol-anchored protein (GPI-AP) deficiency; PIGQ; sphenoid wing dysplasia; GENE;

D O I：

10.1002/ajmg.a.61185

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

PIGQ (OMIM *605754) encodes phosphatidylinositol glycan biosynthesis class Q (PIGQ) and is required for proper functioning of an N-acetylglucosamine transferase complex in a similar manner to the more established PIGA, PIGC, and PIGH. There are two previous patients reported with homozygous and apparently deleterious PIGQ mutations. Here, we provide the first detailed clinical report of a patient with heterozygous deleterious mutations associated with glycosylphosphatidylinositol-anchored protein (GPI-AP) biosynthesis deficiency. Our patient died at 10 months of age. The rare skeletal findings in this disorder expand the differential diagnosis of long bone radiolucent lesions and sphenoid wing dysplasia. This clinical report describes a new and rare disorder-PIGQ GPI-AP biosynthesis deficiency syndrome.

引用

页码：1270 / 1275

页数：6

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