Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

BMC Medical Genomics

Table 4 Incidental findings

Case ID	Sonographic findings	Phenotype category	Gene	Variant	Inheritance	Zygosity	Clinical significance	Disease
2907	Abnormal foot posture, clubfoot	Musculoskeletal system	TRIP12	NM_001284214.2: c.2065 C > T p.(Q689*)	AD	de novo het	P	Mental retardation, autosomal dominant 49 MIM:617,752
6428	Agenesis of corpus callosum	Nervous abnormalities	ARID1B	NM_020732.3: c.6393del p.(M2132Wfs*13)	AD	de novo het	P	Coffin-Siris syndrome 1 MIM:135,900
8212	Abnormality of the cerebral ventricles and the septum pellucidum, agenesis of corpus callosum	Nervous system	FGFR1	NM_023110.3: c.1019 C > T p.(T340M)	AD	de novo het	LP	Hartsfield syndrome MIM:615,465
2092	skin edema, pleural effusion, and talipes equinovarus	Multiple system	TTN	NM_001267550.2:c.38876-2 A > C c.79,096 A > T p.(K26366*)	AR	compound het	P P	Muscular dystrophy, limb-girdle, autosomal recessive 10 MIM:608,807

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; Het, heterozygous; Hom, homozygous; LP, likely pathogenic; P, pathogenic

ISSN: 1755-8794