Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss

Abstract Background Previous studies have revealed that mutations of Spalt Like Transcription Factor 1 ( SALL1 ) are responsible for Townes-Brocks syndrome (TBS), a rare genetic disorder is characterized by an imperforate anus, dysplastic ears, thumb malformations and other abnormalities, such as hearing loss, foot malformations, renal impairment with or without genitourinary congenital heart disease. In addition, the protein tyrosine phosphatase receptor type Q PTPRQ gene has been identified in nonsyndromic loss patients autosomal recessive dominant inherited patterns. Methods A Chinese family TBS was enrolled this study. The proband two-month-old girl who suffered from anal atresia rectal perineal fistula, ventricular septal defect, patent ductus arteriosus, pulmonary hypertension (PH), finger deformities. proband’s father also had external ear deformity deafness, toe deformities PH, although his anus normal. Further investigation found mother presented mother’s parents were consanguine married. Whole-exome sequencing Sanger applied to detect lesions loss. Results Via whole-exome her mother, we novel heterozygous mutation (ENST00000251020: c.1428_1429insT, p. K478QfsX38) phenotypes, detected new homozygous [ENST00000266688: c.1057_1057delC, L353SfsX8)] uncle, Both located conserved sites respective predicted be deleterious informatics analysis. Conclusions This study confirmed diagnosis at molecular level expanded spectrum mutations. Our may contribute clinical management counselling