Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review

Table 3 Clinical and Genetic Characteristics of the non-AMRF Associated Families

Genetic findings				Clinical characteristics	Implication of the Variant	Reported families/ affected individuals	Reference
Type of the variant	Pathogenic Variant	Zygosity	Localization on the protein	Clinical characteristics	Implication of the Variant	Reported families/ affected individuals	Reference
Missense; de novo	c.518 T > C;p.V173A	H	GC binding domain	ASD	Implication in chromatin modification, FMRP-associated mechanisms and embryonic development	1/1	[28]
Missense	c.842 T > C;p.F281S	H	GC binding domain	SUDEP	Implication in the underlying mechanisms of SUDEP	1/1	[29]
Missense	c.914C > T;p.Y305M	H	Lumenal domain	PS	Possible modifier in the PS	1/2	[30]
Nonsense	c.1365; p.W455X	CH	Lumenal domain	Epilepsy and neurodevelopmental disorders	Implication in the underlying mechanisms of epilepsy and neurodevelopmental disorders	1/1	[31]
Frameshift	c.434_435insAG; p.W146SfsX16^a	CH	Lumenal domain	Epilepsy and neurodevelopmental disorders		1/1	[31]
Missense	c.1412A > G;p.E471G	H	TM domain	Gaucher disease, myoclonic epilepsy, dementia	Possible modifier in the binding dependent mechanisms of LIMP-2 and GC	1/2	[32]
Frameshift	c.350_351delAT; p.Y117CfsX3	HM	Lumenal domain	Cerabellar ataxia, seizures, myoclonus and dementia reported in general. Detailed patient specific information was NR	Implication in the cerabellar ataxia, seizures, myoclonus and dementia	1/1	[33]
Frameshift	c.1337delG;p.G446VfsX48	CH	Lumenal domain	Seizures	NR	1/1	[34]
Frameshift	c.434_435insAG;p.W146SfsX16^a	CH	Lumenal domain	Seizures	NR	1/1	[34]

Molecular and clinical details of the reported pathogenic variants associated with atypical clinical features. ^athe variant was associated with AMRF in a homozygous state. NR Not reported in the corresponding study, HM homozygote, CH compound heterozygot, H heterozygot, ASD autism spectrum disorder, SUDEP sudden unexpected death in epilepsy, PS Pendred syndrome

ISSN: 1471-2377