. Author manuscript; available in PMC: 2020 Dec 5.

Published in final edited form as: J Inherit Metab Dis. 2020 Aug 3;43(6):1321–1332. doi: 10.1002/jimd.12278

TABLE 1.

Clinical features of seven new affected individuals from six families with biallelic variants in PIGQ, and review of the literature

Subject ID/source	St1	St2	St3a	St3b	St4	St5	St6
Variants & Inheritance (NM_148920.2)	Homozygous: c.1611del p.R538Afs*24	Maternal: c.1199_1201del p.Y400del Paternal: c.942+1G>A IVS4+1G>A	Maternal: c.1578_1579del p.Q527Afs*75 Paternal: c.1199_1201del p.Y400del	Maternal: c.1578_1579del p.Q527Afs*75 Paternal: c.1199_1201del p.Y400del	Maternal: c.1130_1168del p.A377_S389del Paternal: c.1345G>C p.G449R	Maternal: c.49G>A p.G17R Paternal: c.942+1G>A IVS4+1G>A	Homozygous: c,1670del p.G557Dfs*4
Gender	Female	Female	Female	Female	Female	Male	Male
Ancestry	Turkish	European/Puerto Rican	British Isles/French Canadian	British Isles/French Canadian	Lebanese/Iraqi	Mexican	Afghani
Current age	11 y	6 y 6 mo	Deceased 2 d	Deceased 5 y	Deceased 9 m	2 y 2 m	Deceased 3 y 9 m
Prenatal issues	−	Polyhydramnios	Prominent kidneys, premature rupture of membranes	−	Polyhydramnios, hepatomegaly, hydronephrosis	Dandy Walker malformation	−
Neonatal complications	−	Respiratory distress, hypoglycemia, failed newborn hearing screen in left ear.	Respiratory distress, renal and cardiac failure	Jaundice, secundum atrial ventricular defect detected after birth	Respiratory distress	Respiratory distress, feeding difficulties, jaundice, PDA, PFO	Feeding difficulties, hypertonia
Developmental delay	+	+	N/A	+	+	+	+
Seizure onset	6 mo	7 mo	N/A	Almost 4 mo	7 mo	6 mo	2.5 mo
Hypotonia	+	+	N/A	+	+	+	+
Abnormal movements	+	+	N/A	+	+	+	+
Facial dysmorphism	−	+	+	+	+	+	+
Cranial shape anomalies	−	+	−	−	+	+	+
Teeth anomalies	−	+	N/A	+	Too young	+	−
Skeletal anomalies	+	+	−	+	+	+	−
Joint contractures	+	−	−	+	+	−	−
Other dysmorphic features	+	−	+	−	+	−	−
Deafness	−	−	−	−	Mild left conductive	−	−
Ophthalmological anomalies	+	+	N/A	+	+	+	+.
Cardiac anomalies	−	+	+	+	+	+	+.
Genitourinary abnormalities	+	+	+	No U/S done	+	+	+
Gastrointestinal issues	+	+	N/A	+	+	+	+
Serum alkaline phosphatase	Normal	Intermittently elevated	Not measured	Elevated	Elevated	Not measured	Normal
Subject ID/source		Martin et al¹³		Alazami et al¹⁴		Starr et al¹⁵
Variants & Inheritance (NM_148920.2)		Homozygous: c.690-2A>G		Homozygous: c.619C>T p.R207*		Maternal: c.968_969del p.L323Pfs*119 Paternal: c.1199_1201del p.Y400del
Gender		Male		N/A		Male
Ancestry		West African		N/A		N/A
Current age		Deceased 2 y 4 m		N/A		Deceased 10 mo
Prenatal issues		−		N/A		Severe polyhydramnios requiring multiple amniocentesis fluid reduction procedures
Neonatal complications		At 4 wk: cyanotic episodes with eye twitching, brief stiffening of upper body.		N/A		Feeding difficulties, trembling episodes
DD/ID		+		+		+
Seizure onset		4 wk		N/A		7 mo
Hypotonia		+		N/A		+
Abnormal movements		+		N/A		+
Facial dysmorphism		+		N/A		+
Cranial shape anomalies		−		N/A		+
Teeth anomalies		−		N/A		−
Skeletal anomalies		−		N/A		+
Joint contractures		−		N/A		N/A
Other dysmorphic features		+		N/A		+
Deafness		−		N/A		−
Ophthalmological anomalies		+		+		+
Cardiac anomalies		−		N/A		+
Genitourinary anomalies		−		N/A		+
Gastrointestinal issues		+		N/A		+
Serum alkaline phosphatase		N/A		N/A		Elevated

Note: Further details are provided in Table S2.

Abbreviations: N/A, not applicable; PDA, patent ductus arteriosus; PFO, patent foramen ovale; U/S, ultrasound.