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Table 1 Review genomic and clinical information on patients with duplication involving GRB10

From: FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset

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
  1. Abbreviation: FISH fluorescence in situ hybridization, DD developmental delay, GDD Global developmental delay, FTT: failure to thrive