Recurrent acute liver failure in infancy - a novel SCYL1 mutation: A case report

Table 3 Reported cases of SCYL1-associated recurrent acute liver failure and neurological manifestations (literature review)

Ref.	Patient (s)	Genotype	Key phenotypic features
Schmidt et al[8]	2 siblings (European), 1 female (Cuban)	Compound heterozygous: P.Val313Cysfs*6, p.Ala504Profs*15; p.Gln546*, c.1230+1G>A	RALF, chronic fibrosis, CVA, intention tremor, neurogenic stutter
Lenz et al[1]	7 pediatric patients	Homozygous nonsense (p.Gln628*, p.Glu86*, p.Gln57*) and missense (p.Asp478Gly, p.Ala105Val)	Named CALFAN. Low-GGT cholestasis, RALF; variable neuro-phenotypes
Incecik et al[6]	10 years male (Turkish)	Homozygous: C.1420C>T (exon 11)	First Turkish case; RALF, delayed motor milestones, axonal neuropathy, CVA
Shohet et al[7]	28 months male, 18 years aunt (Ashkenazi Jewish)	Homozygous synonymous: C.459C>T (exon 4)	Aberrant splicing. RALF, short stature, motor neuropathy
Li et al[4]	7 years male (Han Chinese)	Homozygous frameshift: P.H32Gfs*20 (exon 1)	First East Asian case. RALF, late-onset skeletal disease, mild neuro-impairment
Spagnoli et al[9]	7 years female	Homozygous 1-bp duplication: P.Cys512 Leufs*8	Predominant neurologic phenotype; recurrent respiratory failure
McNiven et al[10]	13 years male, 9 years female (siblings)	Compound heterozygous: P.Asn133 Lysfs*136 and multi-exon deletions (exons 7-8)	Severe hepatic phenotype requiring liver transplantation; later tremor and cognitive dysfunction
Isa et al[11]	5 years male (Bahraini)	Homozygous nonsense: C.895A>T (exon 7)	RALF triggered by fever, global developmental delay, progressive inability to walk
Zare et al[12]	11 years female (Iranian)	Homozygous mutation in exon 11	Recurrent liver failure, compensated cirrhosis, gait disability, dysarthria, clubfoot
Kazem et al[13]	8years female, 9 years male (Kuwaiti Siblings)	Homozygous splice site: C.1386+1G>A	Intrafamilial variability: Girl had RALF; brother remains asymptomatic
Suenera et al[14]	6 years female (Indian)	Homozygous frameshift: P.Lys249ArgfsTer58 (exon 6)	Overlap with PFIC. Also carried LPAR6 mutation explaining brittle hair
Present case	19 months female (Arab)	Homozygous nonsense: C.1420C>T (p.Arg474*) (exon 11)	RALF × 3, low-GGT cholestasis, pancytopenia, tremors, fine motor delay; partial steroid response

RALF: Recurrent acute liver failure; CVA: Cerebellar vermis atrophy; CALFAN: Cholestasis, acute liver failure, and neurodegeneration; GGT: Gamma-glutamyl transferase; PFIC: Progressive familial intrahepatic cholestasis.