Table 1 Genotype and phenotype information in 4 families with a sibling with MPVs
Pedigree ID | Individual ID | Clinical phenotype of the patients | Initially identified variants / Zygosity | gnomAD AF (Exomes/Genomes) | Additional variants identified in this study / Zygosity | gnomAD AF (Exomes/Genomes) | OMIM Phenotype | ACMG classification of the additional variants | Other Evidence |
|---|---|---|---|---|---|---|---|---|---|
HOU1842 | BAB4133 | microcephaly, developmental delay, and intellectual disability | TNN:NM_022093:c.2516G > A:p.R839K / homozygous | 0/0 | |||||
BAB4134 | CYP1B1:NM_000104.4:c.182G > A:p.G61E / homozygous | 0.000318/ 0.000128 | Anterior segment dysgenesis 6, multiple subtypes (OMIM #617315) Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset (OMIM #231300) | Pathogenic | Bejjani et al., AJHG,1998;Stoilov et al., AJHG, 1998 | ||||
HOU2280 | BAB6025 | Neurodevelopmental disorders | ASH2L:NM_001105214:c.1444A > G: p.I482V / homozygous | 0/0 | ECEL1:NM_004826.4:c.2012G > A:p.G671E / homozygous | 0/0 | Arthrogryposis type-5D (OMIM #615065) | Likely Pathogenic | |
BAB6026 | |||||||||
HOU2437 | BAB6511 | developmental delay, intellectual disability, microcephaly, and epilepsy | CINP:NM_032630:c.637 T > G:p.*213Gext*21 / homozygous | 0/0 | MFN2:NM_014874.4:c.1555C > T: p.R519C / homozygous | 0.0000159/0 | Charcot-Marie-Tooth disease type 2A2B (OMIM #617087) Lipomatosis, multiple symmetric, with or without peripheral neuropathy (OMIM #151800). | Uncertain Significance | Likely pathogenic (ClinVar Variation ID: 522942) |
BAB6512 | |||||||||
HOU4131 | BAB11385 | spasticity, increased deep tendon reflexes, hirsutism, intellectual disability and neuromotor delay | ASXL3:NM_030632.3:c.2213C > T:p.S738F / homozygous | 0/0 | |||||
BAB11388 | PLA2G6:NM_003560.4:c.16C > T:p.R6C / homozygous | 0.000119/ 0.000127 | Infantile neuroaxonal dystrophy 1 (OMIM #256600) Neurodegeneration with brain iron accumulation 2B (OMIM #610217) Parkinson disease 14, autosomal recessive (OMIM #612953) | Uncertain Significance | Mahdieh et al., Sci Rep. 2021 |