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

Soorya, Latha; Kolevzon, Alexander; Zweifach, Jessica; Lim, Teresa; Dobry, Yuriy; Schwartz, Lily; Frank, Yitzchak; Wang, A Ting; Cai, Guiqing; Parkhomenko, Elena; Halpern, Danielle; Grodberg, David; Angarita, Benjamin; Willner, Judith P; Yang, Amy; Canitano, Roberto; Chaplin, William; Betancur, Catalina; Buxbaum, Joseph D

doi:10.1186/2040-2392-4-18

Molecular Autism

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
SH27^a	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

^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.

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ISSN: 2040-2392

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