Skip to main content

Advertisement

Table 1 Description of the genetic changes in 32 participants with 22q13 deletions or SHANK3 mutations

From: Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

Patient Gender Ascertainment method Rearrangement Del 22q13, array coordinates (hg19) Del 22q13 size Validation Inheritance Additional genomic findings
SH1 Male Karyotype, FISH Ring 22 48927548-51224208 2,296,661 MLPA Mother negative None
SH2 Male Karyotype, aCGH Ring 22 48444959-51224208 2,779,250 MLPA De novo None
SH3 Male Karyotype, SNP array Ring 22 49114430-51224208 2,109,779 MLPA De novo None
SH4 Female aCGH Terminal deletion 44321641-51224208 6,902,568 MLPA De novo None
SH5 Male aCGH Terminal deletion 46143471-51224208 5,080,738 MLPA De novo None
SH6 Female aCGH, FISH Terminal deletion 44427703-51224208 6,796,506 MLPA De novo None
SH7 Female Karyotype, FISH Ring 22 46905533-51224208 4,318,676 MLPA Mother negative None
SH8 Female aCGH, and FISH Terminal deletion 49574124-51224208 1,650,085 MLPA De novo None
SH9 Female aCGH, FISH Terminal deletion 49028732-51224208 2,195,477 MLPA De novo None
SH10 Male SNP microarray Terminal deletion 51122946-51224208 101,263 MLPA De novo None
SH11 Female aCGH, FISH Terminal deletion 49028732-51224208 2,195,477 MLPA De novo None
SH12 Male aCGH Terminal deletion 42773732-51224208 8,450,477 MLPA De novo None
SH13 Female Karyotype Terminal deletion 43745129-51224208 7,479,080 MLPA De novo None
SH14 Female aCGH, FISH Unbalanced translocation 50267252-51224208 956,957 MLPA De novo None
SH15 Female SNP microarray Terminal deletion 45902119-51224208 5,322,090 MLPA De novo None
SH16 Female CMA, FISH Terminal deletion 42918711-51224208 8,305,498 MLPA Father negative None
SH17 Female SNP microarray Terminal deletion 45583935-51224208 5,640,274 MLPA De novo None
SH18 Female aCGH, FISH Terminal deletion 50077362-51224208 1,146,847 MLPA De novo None
SH19 Male FISH Interstitial deletion 48551989-51206201 2,654,212 MLPA Father negative None
SH20 Male aCGH Terminal deletion 51083118-51224208 141,091 MLPA De novo None
SH21 Male aCGH Terminal deletion 45428606-51224208 5,795,603 MLPA De novo None
SH22 Male FISH Terminal deletion 44800014-51224208 6,424,195 MLPA De novo None
SH23 Male Karyotype, FISH Unbalanced translocation 44023173-51224208 7,201,036 MLPA De novo None
SH24 Male Karyotype, aCGH Ring 22 43218614-51224208 8,005,595 MLPA De novo None
SH25 Male aCGH, FISH Terminal deletion 46787434-51224208 4,436,775 MLPA De novo None
SH26 Male Karyotype, FISH Ring 22 49460840-51224208 1,763,369 MLPA De novo deletion; maternal balanced translocation, 46,XX, t(1;6)(p13.3;q22,2) None
SH27a Male SNP microarray Terminal deletion 51115526-51234443 118,917 no DNA, validated in a clinical lab De novo deletion; maternal balanced translocation, 46,XX, t(11;22)(q23;q11.2) None
SH28 Female aCGH, FISH Terminal deletion 45705241-51224208 5,518,968 MLPA De novo None
SH29 Male Sequencing SHANK3 frameshift mutation (c.2497delG) No 22q13 deletion detected   Sanger sequencing De novo None
SH30 Female FISH Terminal deletion 49004395-51224208 2,219,814 MLPA Father negative None
SH31 Male aCGH Terminal deletion 42822943-51224208 8,401,266 MLPA Mother negative None
SH32 Male Sequencing SHANK3 nonsense mutation (c.1527G>A) No 22q13 deletion detected   Sanger sequencing De novo De novo 17q12 microduplication (chr17:34815184–36249059)b
  1. aNo blood was available for participant SH27 or his parents so we present the findings of the clinical report, which used the Affymetrix 6.0 platform. bReported previously [45]. aCGH, array comparative genomic hybridization; CMA, chromosomal microarray analysis; FISH, fluorescent in situ hybridization; hg, human genome version; MLPA, multiplex ligation-dependent probe amplification; SNP, single nucleotide polymorphism.