Table 2 Diagnostic copy number variants identified among patients undergoing next-generation sequencing-based multi-gene panel testing for suspected skeletal dysplasia
Study ID | Phenotype | Chrom | Event | Copy number | OMIM morbid gene(s) | Size category | Minimum size (bp) | Classification |
|---|---|---|---|---|---|---|---|---|
324 | Hypotonia, developmental delay, blue sclera. Family history of OI. Consanguinity reported | 9 | Loss | 0 | TMEM38B | Intragenic | 241 | Pathogenic |
247 | Macrocephaly, short stature, thin tubular bones, small thorax | 6 | Loss | 1 | CUL7 | Intragenic | 458 | Likely pathogenic |
096 | Skeletal dysplasia consistent with Stickler syndrome or brachyolmia | 1 | Loss | 1 | COL11A1 | Intragenic | 827 | Likely pathogenic |
435 | Short stature, dysmorphic facies | X | Loss | 1 | SHOX | Single gene | 20,429 | Pathogenic |
460 | Short stature, markedly reduced limb length, scoliosis, chronic musculoskeletal pain | X | Loss | 0 | SHOX | Single gene | 20,429 | Pathogenic |
226 | Short stature, markedly reduced limb length. Father with short limbs | X | Loss | 1 | SHOX | Single gene | 324,729 | Pathogenic |
516 | Short stature, dysmorphic facies, speech delay | 20 | Loss | 1 | BMP2, MCM8, FERMT1 | Multigenic | 827,196 | Pathogenic |
454 | Disproportionated short stature, hypermobility, delayed bone age, abnormal epiphyses | 15 | Loss | 1 | ADAMTS17, CHSY1, IGF1R MEF2A, CERS3, LINS1, ALDH1A3 | Multigenic | 3,343,316 | Pathogenic |
456 | Disproportionate short stature | 15 | Loss | 1 | ADAMTS17, CHSY1, IGF1R, MEF2A, CERS3, LINS1, ALDH1A3 | Multigenic | 3,764,795 | Pathogenic |
257 | Rhizomelic short stature, relative macrocephaly | X | Loss | 1 | SHOX, ARSL, CSF2RA, XG, NLGN4, | Multigenic | 5,774,581 | Pathogenic |
540 | Rhizomelic short stature, relative microcephaly, difficulty pronating and supinating arms. Family history if similar features in two first-degree relatives and others | X | Loss | 1 | SHOX, ARSL, CSF2RA, XG, NLGN4, STS | Multigenic | 6,683,360 | Pathogenic |
023 | Multiple congenital anomalies including skeletal abnormality of the radius and abnormal hands | 18 | Gain | 3 | Whole chromosome | Aneuploidy | N/A | Pathogenic |
233 | Short stature, possible reduced femur length, coarse facial features | X | Loss | 1 | Whole chromosome | Aneuploidy | N/A | Pathogenic |