Shedding light on the phenotypic–genotypic correlation of rare treatable and potentially treatable pediatric movement disorders

Saleh, Dina Amin; Attia, Azza Abd El Moneim

doi:10.1186/s43042-022-00286-w

Egyptian Journal of Medical Human Genetics

Table 4 Patient’s final diagnosis and phenotypic/genotypic correlation

From: Shedding light on the phenotypic–genotypic correlation of rare treatable and potentially treatable pediatric movement disorders

Patient	Phenomenology	Diagnosis	Gene	Zygosity (variant type)	NM number	Nucleotide and protein changes	Type of variant change and its class	In silico prediction	MAF
P1	1-BFIC 2-PKC 3-EA	ICCA	PRRT2	Homozygous	NM_001256442.1	c.880-34G>A; p.(?)	Substitution Pathogenic (class I)	PolyPhen-2: N/A Align-GVGD: N/A SIFT: N/A MutationTaster: N/A LRT: N/A Conservation: Conserved across mammals	gnomAD: N/R ESP: N/R 1000 G: N/R
P2	Exercise induced dyskinesia	GLUT-1 deficiency	SLC2A1	Heterozygous	NM_006516	c.457C>T; p.Arg153Cys	Missense Pathogenic (class I)	PolyPhen-2: Probably damaging SIFT: Damaging MutationTaster: Disease causing LRT: Deleterious REVEL: pathogenic PROVEAN: Damaging Conservation: Conserved across species	gnomAD: N/R ESP: N/R 1000 G: N/R
P3	Dystonia (facial and whole body)	AADCD	DDC	Homozygous		c.242C>T; p.Pro81Leu	Missense Pathogenic (class I)	PolyPhen-2: Possibly damaging SIFT: Damaging MutationTaster: Disease causing LRT: Deleterious REVEL: pathogenic PROVEAN: Damaging Conservation: Conserved across species	gnomAD: N/R ESP: N/R 1000 G: N/R
P4	Dystonia	MPXPS	MICU 1	Homozygous	NM_006077.3	c.553C>T; p.Gln185^*	Nonsense likely pathogenic (class II)	MutationTaster: Disease causing LRT: Deleterious Conservation: Conserved across species	gnomAD: 0.00002 0.002% (4/204610 alleles) ESP: N/R 1000 G: N/R
P5	Exercise induced dyskinesia, muscle cramps and pain	MTP	HADHB	Homozygous	NM_000183.2	c.397A>G; p.Thr133Ala	Missense VUS (class III)	PolyPhen-2: Possibly damaging SIFT: Damaging MutationTaster: Disease causing LRT: Deleterious REVEL: pathogenic PROVEAN: Damaging Conservation: Conserved across species	gnomAD: 0.0001061 0.011% (30/282798 alleles) ESP: 0.0116% 1000 G: N/R
P6^a	Ataxia Refractory seizures Psychomotor regression	GA-II Serine deficiency	ETFDH PHGDH	Homozygous Homozygous	NM_004453.2 NM_00662303	c.679C>A; p.Pro227Thr c.1219T>C; p. Ser407Pro	Missense VUS (class III) Missense VUS (class III)	PolyPhen-2: Probably damaging SIFT: Damaging MutationTaster: Disease causing LRT: Deleterious REVEL: pathogenic PROVEAN: Damaging Conservation: Conserved across species PolyPhen-2: Possible damaging SIFT: Damaging MutationTaster: Polymorphism LRT: Tolerated PROVEAN: Neutral Conservation: Conserved across mammals	gnomAD: 0.00001193 0.0012% (3/251428 alleles) ESP: 0.0116% 1000 G: N/R gnomAD: N/R ESP: N/R 1000 G: N/R

AADCD, Aromatic L amino acid decarboxylase deficiency; BFIC, benign familial convulsions; EA, episodic ataxia; GA-II, glutaric aciduria type II; GLUT-1, glucose transporter type 1 deficiency; ICCA, infantile convulsions and paroxysmal choreoathetosis syndrome; MAF, minor allele frequency; MPXPS, myopathy with extrapyramidal signs; MTP, mitochondrial trifunctional protein deficiency; N/R, Not Reported; PKC, paroxysmal kinesigenic choreoathetosis; VUS, variant of uncertain significance
^aPublished in Ali A. et al. Genes[10]

Back to article page