Table 1

Clinical findings in patients with the R276X (826C→T) SALL1 mutation

PatientAge (years)AnusHandsEarsHearingMRKidneysRFFeetUGHeartOther
The first column identifies the patients and their families. For example, “3/1, F” reads: family 3, patient no. 1, female.
APA, anteriorly placed anus; APL, aplastic/aplasia; ASD, atrial septum defect; bil., bilateral; CFT, club feet; DPL, dysplastic; F, female; HPL, hypoplastic; HSP, hypospadias; IA, imperforate anus (type not specified); IUGR, intrauterine growth retardation; M, male; Micr., Microtia; MR, mental retardation; MMR, mild mental retardation; N, normal (clinically and by further testing if required); NR, no abnormality reported (clinically normal; no further testing performed); PC, polycystic; PP, preaxial polydactyly; RC, reduced clearance; RF, renal function; SNHL, sensorineural hearing loss; T, thumb; TT, triphalangeal thumbs; UG, urogenital; VSD, ventricular septum defect.
5/1, M5?“Bucket handle”TTDPLSNHLNRUnil. APLNoOverlapping toes, dorsoflexionNVSD
103/1, M5Skin tagPPMicrotiaSNHLNoBil. HPLRFBil. APL 2nd and 3rd toesHSPSmall VSDPosterior cleft palate
119/1, F3IA/ fistulaTTDPL, low set, tagsSNHLNRNNDorsoflexionNN
182/1, M6IAPPDPL, tagsNSMRNNOverlapping toesNNAbdominal muscle diastasis R
186/1, M34IAPPMicrotia, low setSNHLNoNNoBil. APL of 2 toes, syndactly 3/4 LNTOF
188/1, M2IANDPLNNoBil. HPLRCNNNHigh blood pressure
205/1, F19Skin tag, const.TT, PPDPL, tag RSNHLNoUnilateral APLNoOverlapping toes, flat feetNNRAsymmetric face
224/1, F20APATT, PP RDPLSNHLNoNNoOverlapping toes RNASD, VSD
224/2, F4/12IA/fistulaPP,TTDPL, tagsNRNRNNoBilateral APL 3rd ray, bilateral syndactly 1/2Nsevere TOFIUGR, APL central pulmonary arteries
TB66?IA/fistulaPP, TT, SDDPL, tagsmixedNRNNRNRNRVSDUterovaginal HPL
TB76?IA/fistulaPP, TTMicrotia, EAA, tags, pitsSNHLNRBil. HPLNRMalformedNRNR
TB86?IAPP, TTMicrotia, EAAmixedNRNRRFNRNRNRRetinal maculopathy
Pat.2, M12?Raphe, skin tagPPMicrotia,NRNRBil. HPLNRSplit feet, 1–2 syndactly L, 4–5 syndactyly RHSPVSDN. VII weakness L, asymmetric face