Fig. 2: Clinica images of unusual phenotypes observed in this cohort. | Genetics in Medicine

Fig. 2: Clinica images of unusual phenotypes observed in this cohort.

From: The morbid genome of ciliopathies: an update

Fig. 2

(a–c) Facial images of three Bardet–Biedl (BBS) patients—16DG0944 (BBS9:NM_198428.3:c.1789+1G>A), 19DG2152 (BBS9:NM_024649:c.363C > A:p.(Tyr121*), and 19DG2175 (BBS7:NM_018190:c.1217_1218del:p.(Asn406Serfs*6), respectively—with the atypical feature of macrocephalic overgrowth. (d) SCLT1-related BBS (17DG1007 with SCLT1:NM_144643.2:c.290+2T > C:p.[Lys79Valfs*4]). (e,f) Antenatal ultrasound of TTC21B-related renal agenesis (17DG0098 with TTC21B:NM_024753.4:c.1176_1185+1del:p.[Lys393fs]), arrow points to empty renal fossa, indicating renal agenesis, and absence of the renal artery is indicated in (f) by dotted box. (g,h) Antenatal ultrasound of NPHP3-related renal agenesis (19DG0819 with NPHP3:NM_153240.4:c.2694-2_2694-1delAG), arrow points to empty renal fossa, indicating renal agenesis, and the absence of the renal artery is indicated in (h) by dotted boxes. (i) Antenatal fetal ultrasound showing atypical presentation of a fetus (16DG0393) homozygous for a pathogenic dominant variant PKD1:NM_000296:c.4349_4351del:p.(Asn1450del), showing enlarged posterior fossa and hypoplastic cerebellum. (j) Computed tomography (CT) scan for mother of 16DG0393 showing polycystic kidney and liver. (k) Atypical phenotypic expression of WDR19 in a patient (19DG1441 with WDR19:NM_025132.4:c.2777G > T:p.[Ser926Ile]) with nonsyndromic Stargardt disease with a color fundus photo of the right eye showing chorioretinal atrophy in the central macula and residual flecks in the midperiphery (arrows). (l) An atypical BBS case (19DG0403 with CEP164:NM_001271933.1:c.1735C > T:p.[Arg579*]) with a phenotype of primary ciliary dyskinesia (PCD) in the lungs, and (m) color fundus photo of the left eye for the same patient showing macular atrophy, diffuse retinal pigment epithelial (RPE) atrophy, and chorioretinal coloboma. (n) An aborted fetus (19DG0238 with TMEM231:NM_001077416:c.597+1G > A and CHRNG:NM_005199:c.1495C > T:p.[Arg499Trp]) with a blended phenotype of MKS and fetal akinesia. (o–q) A case (19DG1316) with a homozygous variant INVS:NM_014425:c.875C > T:p.(Pro292Leu), and a heterozygous variant SUFU:NM_001178133:c.1297-3C > A, images show brain atrophy, liver cirrhosis, and levoscoliotic deformity of the lumbar spine centered at L2 with Cobb angle of 28 degrees.

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