Table 1.

Genetic and clinical description of ALG6-CDG patients published from 1998 to 2011

Reported ALG6-CDG patients	1	2	3	4	5	6	7	8	9	10
ALG6 gene mutation	c.998C>T (Homozygous and heterozygous)	Paternal: c.924C>A and c.391T>C, Maternal: c.998C>T (Heterozygous)	c.895-897 delATA and c.IVS3 + G>A (Heterozygous)	IVS 3 + 5G>A and c.998C>T or c.680G>A (Heterozygous)	c.509G>T and 1330_1332delCTT (Heterozygous)	c.391T>C and c.998C>T (Heterozygous) or c.391TT>C (Homozygous)	IVS3 + 3_3insT and c.998C>T (Heterozygous)	IVS7 + 2T>G and 897-897-899delAAT (Heterozygous)	c.338G>A and 10–12 Mb del(1)(p31.2p32.3) (Heterozygous)	c.482A>G (Homozygous)
Amino acid change	p.A333V(or combined with other mutation)	p.S308A, p.Y131H and p.A333V	In-frame deletion (delI299) and in-frame skipping	Aberrant splicing and p.A333V or p.G227E	p.S170I and in-frame deletion (ΔL444)	p.Y131H and p.A333V or p.Y131H alone	In-frame skipping and p.A333V	Aberrant splicing and in-frame deletion (delI299)	p.R113H and a deletion described on gDNA level	p.Y161C
Neurological abnormalities
Microcephaly/macrocephaly	Not reported	–	–	+ (microcephaly)	Not reported	–	–	–	+ (macrocephaly)	–
Hypotonia	+	+	+	+	+	+	+	+	+	+
Strabismus (internal or external if mentioned)	+ (internal)	Not reported	+	+	–	+	+	–	+	–
Psychomotor retardation (including speech delay)	+	+	+	+	+ (normal speech development)	+	+	+	+	+
Epilepsy	+	+	–	+	+	+	+	+	Not reported	+
Hypokinesia/ tremors	−/+	–	–	–	–	–	+ (tremors)	+ (tremors)	–	+ (hypokinesia)
EEG	Mostly normal	Normal	Abnormal	Not reported	Not reported	Normal	Not reported	Not reported	Normal	Not reported
Brain imaging	Cortical atrophy	Delayed myelination, slight cortical atrophy	Thin corpus callosum, mild cerebellar atrophy , mild widening of CSF spaces and ventricular system	Minimal cortical atrophy	–	Agenesis of corpus callosum (Westphal et al. 2003), cerebellar dysfunction (Miller et al. 2011)	Delayed myelination, normal cerebellum	Papilledema, but MRI normalized with age	Hypoplastic corpus callosum and absent septum pellucidum, white matter abnormality	Widening of CSF spaces and ventricular system, normal cerebellum
Optic dysfunction and/or -atrophy	−/+	+	+	+	+	+ (Miller et al. 2011)	Not reported	+	–	+
Dysmorphism	Broad nasal bridge, prominent forehead and large ears	–	–	Anormal long and narrow distal limbs, inverted nipples (noted at 6.5 months)	–	Broad nasal bridge	–	Abnormal fingers and toes (distal phalangeal hypoplasia with shortened toes and fingers)	Facial and limb abnormalities, deep set eyes, broad nasal bridge, loose skin, unusual fat distribution and other dysmorphic features	Severe body and facial abnormalities, inverted nipples and broad nasal bridge
Gastrointestinal symptoms	–	Severe protein-losing enteropathy, gastroenteritis and diarrhea	–	Protein-losing enteropathy	–	Gastrointestinal disturbances	Peripheral edema and diarrhea, abdominal distention, protein-losing enteropathy	–	Mild hepatomegaly	–
Other symptoms	Poor feeding, recurrent infections	Hormonal abnormalities, e.g., cortisol deficiency	–	Poor feeding, apnea at the age of 4.5 months	–	Abnormal endocrinological function	Poor feeding (anorexia), vomiting, cardiac abnormalities, recurrent infection	Apnea, cyanosis, abnormal hair growth and distribution, ovaria and hormonal abnormalities	Poor feeding, cardiac abnormality: biventricular hypertrophy	Poor feeding, cardiomyopathy, brachycephaly, bilateral cryptorchidism, bilateral esotropia
Reference	Imbach et al. 1999 (Genotype) and Grünewald et al. 2000 (Phenotype), Körner et al. 1998	Westpal et al. 2000 (Dec)	Hanefeld et al. 2000 (Phenotype) and Westphal et al. 2000a (Genotype)	Imbach et al. 2000 (genotype), Du Plessis et al. 2001 (phenotype) and Schollen et al. 2002	De Lonlay et al. 2001	Westphal et al. 2003 and Miller et al. 2011	Newell et al. 2003	Sun et al. 2005	Eklund et al. 2006	Al-Qwaine et al. 2010

– : Not present

+ : Present (severity not indicated)