Exploration of Neuroprotective Therapy

Table 2. The likely causative variants identified in all families.

Family#	Parent’s relatedness	Identified variant	Allele frequency		Genotype in the patient	Gene symbol	OMIM disease name	OMIM disease#	Inheritance pattern*
Family#	Parent’s relatedness	Identified variant	In-house*	gnomAD	Genotype in the patient	Gene symbol	OMIM disease name	OMIM disease#	Inheritance pattern*
1	First cousins, once removed (grandmother’s of the mother is the father's aunt)	NM_000218.3:c.1552C>T;p.Arg518*	0.004274	0.00014313	Homozygous	KCNQ1	Jervell and Lange-Nielsen syndrome	220400	AR
2	First cousins	NM_000487.6:c.256C>G;p.Arg86Gly	0.008547	0.000000622939	Homozygous	ARSA	Metachromatic leukodystrophy	250100	AR
3	First cousins	NM_018359.5:c.344T>A;p.Val115Glu	0.012821	0.0000713148	Homozygous	UFSP2	Condition developmental and epileptic encephalopathy 106	620028	AR
4	First cousins, once removed (grandmother’s of the mother is the father's uncle)	XM_047432780.1:c.240G>A;p.Trp80*	0.008547	–	Homozygous	CLN6	Ceroid lipofuscinosis, neuronal, 6A	601780	AR
5	First cousins	NM_000191.3:c.498-1G>A	0.004274	–	Homozygous	HMGCL	HMG-CoA lyase deficiency	246450	AR
6	First cousins	NM_000154.2:c.678delT;p.Asn226fs	0.004274	–	Homozygous	GALK1	Galactokinase deficiency with cataracts	230200	AR
7	First cousins	NM_022725.4:c.109dupT;p.Trp37fs	0.004274	–	Homozygous	FANCF	Fanconi anaemia, complementation group F	603467	AR
8	First cousins	NM_000433.4:c.366+1G>C	0.004274	–	Homozygous	NCF2	Chronic granulomatous disease 2	233710	AR
9	Double first cousins	NM_006371.5:c.18_25delGGGGGCCG;p.Ala10fs	0.004274	0.00000273746	Homozygous	CRTAP	Osteogenesis imperfecta, type VII	610682	AR
10	No relatedness	NM_001244810.2:c.1241delT;p.Leu414fs	0.00213675	0.000000619546	Heterozygous	FOXP1	Intellectual developmental disorder with language impairment, with or without autistic features	613670	AD

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AR: autosomal recessive; AD: autosomal dominant. –: No record in gnomAD; *In-house: Philadelphia University/Jordan on October, 2025.

Declarations

Acknowledgment

The authors thank all the families who participated in this study.

Author contributions

TF: Conceptualization, Investigation, Writing—original draft, Writing—review & editing, Formal analysis, Visualization, Funding acquisition. EAB: Investigations, Writing—review & editing. Both authors read and approved the submitted version.

Conflicts of interest

The authors declare that there are no conflicts of interest.

Ethical approval

Ethical approval was obtained from the Institute Review Board (IRB) of Philadelphia University in Jordan (IRB number 2/1/2024-2025) and complies with the Declaration of Helsinki.

Consent to participate

Signed informed consents were obtained from all participants in this study. Consents were signed by the parents for all children below 16 years.

Consent to publication

Consents were obtained from all families in this study to publish their data anonymously.

Availability of data and materials

The raw data supporting the conclusions of this manuscript will be made available by the authors, without undue reservation, to any qualified researcher.

Funding

This study was funded by the Deanship of Scientific Research and Graduate Studies at Philadelphia University in Jordan. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Copyright

Publisher’s note

Open Exploration maintains a neutral stance on jurisdictional claims in published institutional affiliations and maps. All opinions expressed in this article are the personal views of the author(s) and do not represent the stance of the editorial team or the publisher.

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