Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1270-1275 |
| Number of pages | 6 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 179 |
| Issue number | 7 |
| DOIs | |
| State | Published - Jul 2019 |
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Keywords
- PIGQ
- bone lesion
- developmental delay
- inherited glycosylphosphatidylinositol-anchored protein (GPI-AP) deficiency
- sphenoid wing dysplasia
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
PIGQ glycosylphosphatidylinositol-anchored protein deficiency : Characterizing the phenotype. / Starr, Lois J.; Spranger, Jürgen W.; Rao, Vamshi K.; Lutz, Richard; Yetman, Anji T.
In: American Journal of Medical Genetics, Part A, Vol. 179, No. 7, 07.2019, p. 1270-1275.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - PIGQ glycosylphosphatidylinositol-anchored protein deficiency
T2 - Characterizing the phenotype
AU - Starr, Lois J.
AU - Spranger, Jürgen W.
AU - Rao, Vamshi K.
AU - Lutz, Richard
AU - Yetman, Anji T.
PY - 2019/7
Y1 - 2019/7
N2 - 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.
AB - 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.
KW - PIGQ
KW - bone lesion
KW - developmental delay
KW - inherited glycosylphosphatidylinositol-anchored protein (GPI-AP) deficiency
KW - sphenoid wing dysplasia
UR - http://www.scopus.com/inward/record.url?scp=85066849542&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85066849542&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.61185
DO - 10.1002/ajmg.a.61185
M3 - Article
C2 - 31148362
AN - SCOPUS:85066849542
VL - 179
SP - 1270
EP - 1275
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 7
ER -