Table 1 Review genomic and clinical information on patients with duplication involving GRB10
Patient/source | Our patient | Patients TB/LB from Joyce et al. [13] | Patient DP from Monk et al. [17] | Patients HC/AC from Monk et al. [16] | Patient from Eggermann et al. [6] (decipher 285981) | Decipher 289205 | Decipher 276327 | ISCA nssv579045 |
|---|---|---|---|---|---|---|---|---|
Genomic location (hg19) | chr7:50654827-5122921 | chr7:42029531–51138357 (D7S691-D7S242) | chr7:40742989–50861159 (D7S1769-GRB10) | chr7:41392336–54000000 (RP5-953B5-7p11.2) | chr7:47034222–52175639 | chr7:50713413-50982532 | chr7:43566637-51282735 | chr7:33367924-61831899 |
Duplication size | 574Kb | ~10 cM | ~10 cM | >10 cM | 5.1 Mb | 270Kb | 7.72 Mb | 28.5 Mb |
Inheritance/orign | de novo/maternal | LB: maternal | de novo/maternal | AC: maternal | de novo/paternal | inherited/paternal | de novo/unknown | unknown |
TB: paternal | HC: unknown | |||||||
Phenotype | SRS | SRS | SRS | SRS-like | overgrowth, DD, microcephaly, seizure | hypotonia, GDD | muscular hypotonia | FTT, GDD, large eyes, microcephaly, short stature, triangular face |
Detection method | array | karyotype/FISH | karyotype/FISH | karyotype/FISH | array | array | array | array |
Genes involved (Refseq) | GRB10 and part of COBL | >50 genes | >50 genes | >50 genes | >20 genes | Part of GRB10 | >40 genes | >180 genes |